Variant report

Variant	rs373269735
Chromosome Location	chr9:136890388-136890389
allele	-/CCAGC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr9:136889725-136890667	H1-hESC	embryonic stem cell:	n/a	chr9:136890211-136890222 chr9:136890145-136890156 chr9:136890229-136890240 chr9:136890178-136890189 chr9:136890193-136890204 chr9:136890465-136890474
2	CHD2	chr9:136889973-136890692	GM12878	blood:	n/a	n/a
3	SRF	chr9:136890202-136890897	MCF-7	breast:	n/a	n/a
4	MYC	chr9:136890327-136890678	HUVEC	blood vessel:	n/a	n/a
5	JUND	chr9:136890217-136890677	GM12878	blood:	n/a	n/a
6	EP300	chr9:136890381-136890658	GM12878	blood:	n/a	n/a
7	POLR2A	chr9:136889800-136891179	H1-neurons	neurons:	n/a	n/a
8	IRF1	chr9:136889955-136890717	K562	blood:	n/a	n/a
9	SIN3AK20	chr9:136890241-136890887	PANC-1	pancreas:	n/a	n/a
10	JUN	chr9:136890006-136891110	K562	blood:	n/a	n/a
11	SP1	chr9:136890023-136890661	K562	blood:	n/a	chr9:136890211-136890222 chr9:136890145-136890156 chr9:136890229-136890240 chr9:136890178-136890189 chr9:136890193-136890204 chr9:136890465-136890474
12	YY1	chr9:136890347-136890552	HCT-116	colon:	n/a	n/a
13	MAX	chr9:136890041-136890769	H1-hESC	embryonic stem cell:	n/a	chr9:136890674-136890683
14	EP300	chr9:136890234-136890720	A549	lung:	n/a	n/a
15	POLR2A	chr9:136889710-136890868	HUVEC	blood vessel:	n/a	n/a
16	GATA3	chr9:136890342-136890680	T-47D	breast:	n/a	n/a
17	JUND	chr9:136889988-136890714	K562	blood:	n/a	n/a
18	PML	chr9:136890278-136890817	GM12878	blood:	n/a	n/a
19	ELK1	chr9:136890189-136890686	Hela-S3	cervix:	n/a	n/a
20	MXI1	chr9:136889604-136891651	SK-N-SH	brain:	n/a	n/a
21	MXI1	chr9:136890334-136891241	GM12878	blood:	n/a	n/a
22	NR2C2	chr9:136890345-136890710	K562	blood:	n/a	n/a
23	NR2C2	chr9:136890314-136890739	Hela-S3	cervix:	n/a	n/a
24	ZNF263	chr9:136889516-136890699	HEK293-T-REx	kidney:	n/a	chr9:136890183-136890204 chr9:136890219-136890240 chr9:136890147-136890168
25	SP1	chr9:136889794-136890846	A549	lung:	n/a	chr9:136890211-136890222 chr9:136890145-136890156 chr9:136890229-136890240 chr9:136890711-136890725 chr9:136890178-136890189 chr9:136890193-136890204 chr9:136890465-136890474
26	EP300	chr9:136890088-136890658	SK-N-SH_RA	brain:	n/a	n/a
27	SRF	chr9:136890200-136890684	GM12878	blood:	n/a	n/a
28	EGR1	chr9:136889916-136890619	K562	blood:	n/a	n/a
29	EP300	chr9:136890297-136890715	T-47D	breast:	n/a	n/a
30	SRF	chr9:136890265-136890713	H1-hESC	embryonic stem cell:	n/a	n/a
31	MYC	chr9:136890049-136891372	NB4	blood:	n/a	chr9:136890674-136890683
32	YY1	chr9:136890340-136890710	SK-N-SH	brain:	n/a	n/a
33	MAX	chr9:136890249-136890775	HepG2	liver:	n/a	chr9:136890674-136890683
34	MXI1	chr9:136890334-136890747	Hela-S3	cervix:	n/a	n/a
35	SRF	chr9:136890296-136890708	K562	blood:	n/a	n/a
36	JUND	chr9:136890243-136890753	A549	lung:	n/a	n/a
37	MAX	chr9:136890295-136891209	SK-N-SH	brain:	n/a	chr9:136890674-136890683
38	HDAC2	chr9:136890330-136890735	HepG2	liver:	n/a	n/a
39	MAX	chr9:136890240-136890969	HUVEC	blood vessel:	n/a	chr9:136890674-136890683
40	MXI1	chr9:136890010-136891159	HepG2	liver:	n/a	n/a
41	ELF1	chr9:136890182-136890627	HepG2	liver:	n/a	n/a
42	RUNX3	chr9:136890352-136890734	GM12878	blood:	n/a	n/a
43	ELF1	chr9:136890002-136891482	GM12878	blood:	n/a	n/a
44	YY1	chr9:136890192-136891187	HepG2	liver:	n/a	n/a
45	ATF3	chr9:136890380-136890723	A549	lung:	n/a	chr9:136890464-136890473
46	POLR2A	chr9:136890324-136890790	Hela-S3	cervix:	n/a	n/a
47	CBX3	chr9:136890207-136890673	K562	blood:	n/a	n/a
48	SPI1	chr9:136890338-136890534	K562	blood:	n/a	n/a
49	EP300	chr9:136890294-136890660	T-47D	breast:	n/a	n/a
50	POLR2A	chr9:136890352-136890895	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:136889824..136891845-chr9:137000522..137002324,2	K562	blood:
2	chr9:136857193..136859735-chr9:136888278..136891342,4	MCF-7	breast:
3	chr9:136888954..136894255-chr9:136931474..136935040,9	K562	blood:
4	chr9:136888457..136893834-chr9:136930854..136936517,11	MCF-7	breast:
5	chr9:136889870..136892902-chr9:136892951..136894891,4	MCF-7	breast:
6	chr9:136889586..136891747-chr9:136893297..136895999,4	MCF-7	breast:
7	chr9:136889377..136892336-chr9:136904315..136908613,4	MCF-7	breast:
8	chr9:136888985..136892489-chr9:136929943..136933995,5	K562	blood:
9	chr9:136888792..136891646-chr9:137000403..137003499,3	MCF-7	breast:
10	chr9:136856335..136860882-chr9:136888369..136892368,8	MCF-7	breast:
11	chr9:136889327..136891768-chr9:136933108..136935436,5	MCF-7	breast:

Variant related genes	Relation type
LINC00094	TF binding region
ENSG00000235106	Chromatin interaction
ENSG00000160293	Chromatin interaction
ENSG00000169925	Chromatin interaction
ENSG00000196363	Chromatin interaction
ENSG00000273249	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894125	chr9:136723520-136931957	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv894128	chr9:136753246-136906752	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv894130	chr9:136767346-136906752	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv831748	chr9:136788484-136944326	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv894131	chr9:136792765-136906752	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv831749	chr9:136809200-136915764	Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv894132	chr9:136813341-136950691	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv428226	chr9:136825035-136994606	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv894134	chr9:136839840-136892523	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv894135	chr9:136839840-136927657	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv894136	chr9:136839840-136938961	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv894137	chr9:136839840-136950691	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
13	nsv894138	chr9:136839840-137093168	Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
14	nsv825148	chr9:136848471-137025632	Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv894139	chr9:136863932-136950691	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
16	nsv894140	chr9:136865879-136927657	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
17	nsv894141	chr9:136865879-136938961	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
18	nsv894142	chr9:136870787-136906752	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
19	nsv466627	chr9:136870787-136938961	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
20	nsv615774	chr9:136870787-136938961	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
21	nsv1048571	chr9:136872166-137265444	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
22	nsv894143	chr9:136874066-136906752	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
23	nsv894144	chr9:136874066-136909261	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
24	nsv894145	chr9:136874066-136925451	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
25	nsv894146	chr9:136874066-136938961	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
26	nsv894147	chr9:136874066-136950691	Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
27	nsv894148	chr9:136874066-137093168	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
28	nsv894149	chr9:136874158-136950691	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
29	nsv894150	chr9:136887757-136944827	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
30	nsv894151	chr9:136887757-137397609	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
31	esv3396736	chr9:136889911-136890506	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136889400-136890800	Enhancers	Placenta	Placenta
2	chr9:136889400-136891200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:136889400-136891200	Active TSS	Brain Cingulate Gyrus	brain
4	chr9:136889400-136891400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:136889600-136890400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:136889600-136890400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:136889600-136890600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr9:136889600-136890800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:136889600-136890800	Active TSS	Brain Hippocampus Middle	brain
10	chr9:136889600-136890800	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr9:136889600-136891200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr9:136889600-136891200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:136889600-136891200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr9:136889600-136891200	Active TSS	Brain Anterior Caudate	brain
15	chr9:136889600-136891200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:136889600-136891200	Active TSS	Fetal Lung	lung
17	chr9:136889600-136891200	Active TSS	Rectal Smooth Muscle	rectum
18	chr9:136889600-136891200	Active TSS	GM12878-XiMat	blood
19	chr9:136889600-136891200	Active TSS	NHEK	skin
20	chr9:136889600-136891400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:136889600-136891400	Active TSS	NHDF-Ad	bronchial
22	chr9:136889600-136891600	Active TSS	A549	lung
23	chr9:136889600-136891800	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr9:136889600-136891800	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr9:136889800-136890400	Flanking Active TSS	Hela-S3	cervix
26	chr9:136889800-136890600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr9:136889800-136890600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr9:136889800-136890800	Active TSS	Duodenum Mucosa	Duodenum
29	chr9:136889800-136890800	Active TSS	Stomach Smooth Muscle	stomach
30	chr9:136889800-136890800	Active TSS	Monocytes-CD14+_RO01746	blood
31	chr9:136889800-136891000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr9:136889800-136891000	Active TSS	Brain Substantia Nigra	brain
33	chr9:136889800-136891000	Active TSS	Fetal Muscle Leg	muscle
34	chr9:136889800-136891000	Active TSS	Fetal Stomach	stomach
35	chr9:136889800-136891200	Active TSS	H1 Cell Line	embryonic stem cell
36	chr9:136889800-136891200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:136889800-136891200	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr9:136889800-136891200	Active TSS	Fetal Intestine Small	intestine
39	chr9:136889800-136891200	Active TSS	Ovary	ovary
40	chr9:136889800-136891200	Active TSS	Right Ventricle	heart
41	chr9:136889800-136891200	Active TSS	Thymus	Thymus
42	chr9:136889800-136891200	Active TSS	HSMMtube	muscle
43	chr9:136889800-136891200	Active TSS	HUVEC	blood vessel
44	chr9:136889800-136891200	Active TSS	NH-A	brain
45	chr9:136889800-136891200	Active TSS	NHLF	lung
46	chr9:136889800-136891400	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr9:136889800-136891400	Active TSS	Brain Angular Gyrus	brain
48	chr9:136889800-136891400	Active TSS	HSMM	muscle
49	chr9:136889800-136891600	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr9:136889800-136892000	Active TSS	H9 Cell Line	embryonic stem cell

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