Variant report

Variant	rs10283728
Chromosome Location	chr9:6413017-6413018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:442)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr9:6412986-6413590	Hela-S3	cervix:	n/a	n/a
2	YY1	chr9:6413017-6413390	GM12891	blood:	n/a	n/a
3	GTF2F1	chr9:6412812-6413358	Hela-S3	cervix:	n/a	n/a
4	BCL11A	chr9:6412600-6413034	GM12878	blood:	n/a	n/a
5	FOXA1	chr9:6412974-6413331	T-47D	breast:	n/a	n/a
6	FOXA1	chr9:6412989-6413294	T-47D	breast:	n/a	n/a
7	MAX	chr9:6412370-6413748	GM12878	blood:	n/a	chr9:6412718-6412727 chr9:6413671-6413681 chr9:6412905-6412915
8	MAZ	chr9:6412899-6414108	Hela-S3	cervix:	n/a	chr9:6413671-6413681 chr9:6412905-6412915
9	TAF7	chr9:6412969-6413440	H1-hESC	embryonic stem cell:	n/a	n/a
10	RELA	chr9:6412529-6413464	GM10847	blood:	n/a	n/a
11	POLR2A	chr9:6412828-6413797	H1-neurons	neurons:	n/a	n/a
12	RCOR1	chr9:6412425-6413325	K562	blood:	n/a	n/a
13	POLR2A	chr9:6412744-6414691	MCF10A-Er-Src	breast:	n/a	n/a
14	ELK1	chr9:6412909-6413363	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr9:6412794-6413849	K562	blood:	n/a	n/a
16	POLR2A	chr9:6412592-6414369	GM12878	blood:	n/a	n/a
17	IRF1	chr9:6412878-6413316	K562	blood:	n/a	chr9:6412934-6412947 chr9:6412969-6412982 chr9:6413038-6413052
18	RELA	chr9:6412442-6413425	GM19099	blood:	n/a	n/a
19	POLR2A	chr9:6412266-6414516	GM12878	blood:	n/a	n/a
20	SP4	chr9:6412481-6413319	H1-hESC	embryonic stem cell:	n/a	chr9:6413038-6413054 chr9:6412902-6412918 chr9:6413040-6413051
21	SPI1	chr9:6412908-6413333	GM12878	blood:	n/a	chr9:6413116-6413125 chr9:6413117-6413124
22	SRF	chr9:6412690-6413258	GM12878	blood:	n/a	chr9:6412905-6412915 chr9:6413042-6413052
23	JUND	chr9:6412704-6413375	K562	blood:	n/a	chr9:6412832-6412846
24	MAX	chr9:6412785-6414549	Hela-S3	cervix:	n/a	chr9:6413671-6413681 chr9:6412905-6412915
25	TAF1	chr9:6412983-6413482	K562	blood:	n/a	n/a
26	POLR2A	chr9:6412756-6413480	SK-N-SH	brain:	n/a	n/a
27	TCF12	chr9:6412810-6413191	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr9:6412417-6413494	HUVEC	blood vessel:	n/a	chr9:6412718-6412727 chr9:6412905-6412915
29	CBX3	chr9:6412407-6413211	K562	blood:	n/a	n/a
30	TEAD4	chr9:6412952-6413377	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr9:6412844-6413566	K562	blood:	n/a	n/a
32	TBP	chr9:6412330-6414082	H1-hESC	embryonic stem cell:	n/a	n/a
33	BCLAF1	chr9:6412420-6413716	GM12878	blood:	n/a	chr9:6413655-6413664 chr9:6413653-6413666 chr9:6412547-6412560 chr9:6412552-6412565
34	CHD2	chr9:6412457-6414120	GM12878	blood:	n/a	n/a
35	POU2F2	chr9:6412512-6413329	GM12878	blood:	n/a	n/a
36	SIN3AK20	chr9:6413002-6413320	A549	lung:	n/a	n/a
37	YY1	chr9:6412917-6413453	K562	blood:	n/a	n/a
38	STAT1	chr9:6412645-6413546	GM12878	blood:	n/a	n/a
39	YY1	chr9:6412928-6413652	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr9:6412770-6413372	U87	brain:	n/a	n/a
41	TAF1	chr9:6412941-6413366	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr9:6412447-6413671	HUVEC	blood vessel:	n/a	n/a
43	TCF12	chr9:6412488-6413305	GM12878	blood:	n/a	n/a
44	POLR2A	chr9:6412398-6414036	GM15510	blood:	n/a	n/a
45	FOS	chr9:6412999-6413239	MCF10A-Er-Src	breast:	n/a	n/a
46	BACH1	chr9:6412549-6413272	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr9:6412920-6413070	GM12869	blood:	n/a	n/a
48	STAT5A	chr9:6412509-6413260	GM12878	blood:	n/a	n/a
49	POLR2A	chr9:6412760-6413877	ProgFib	skin:	n/a	n/a
50	POLR2A	chr9:6412858-6413363	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:6412991-6413041	HPAEpiC	pulmonary alveolar:	n/a
2	chr9:6412991-6413041	U87	brain:	n/a
3	chr9:6412991-6413041	H1-hESC	embryonic stem cell:	embryo
4	chr9:6412991-6413041	HRCEpiC	kidney:	n/a
5	chr9:6412991-6413041	HRE	kidney:	n/a
6	chr9:6412991-6413041	SK-N-SH_RA	brain:	n/a
7	chr9:6412991-6413041	AG04449	skin:	fetal
8	chr9:6412991-6413041	NT2-D1	testis:	n/a
9	chr9:6412991-6413041	HAEpiC	amniotic membrane:	n/a
10	chr9:6412991-6413041	Caco-2	colon:	n/a
11	chr9:6412991-6413041	PrEC	prostate:	n/a
12	chr9:6412991-6413041	NHDF-neo	bronchial:	n/a
13	chr9:6412991-6413041	A549	lung:	n/a
14	chr9:6412991-6413041	HCPEpiC	choroid plexus:	n/a
15	chr9:6412991-6413041	SK-N-SH	brain:	n/a
16	chr9:6412991-6413041	GM12891	blood:	n/a
17	chr9:6412991-6413041	RPTEC	kidney:	n/a
18	chr9:6412991-6413041	AoSMC	blood vessel:	n/a
19	chr9:6412991-6413041	HCM	heart:	n/a
20	chr9:6412991-6413041	PFSK-1	brain:	n/a
21	chr9:6412991-6413041	AG09319	gingival:	n/a
22	chr9:6412991-6413041	HNPCEpiC	eye:	n/a
23	chr9:6412991-6413041	Jurkat	blood:	n/a
24	chr9:6412991-6413041	Hepatocyte	liver:	n/a
25	chr9:6412991-6413041	AG04450	lung:	fetal
26	chr9:6412991-6413041	HIPEpiC	eye:	n/a
27	chr9:6412991-6413041	HEEpiC	esophagus:	n/a
28	chr9:6412991-6413041	GM06990	blood:	n/a
29	chr9:6412991-6413041	HCT-116	colon:	n/a
30	chr9:6412991-6413041	AG09309	skin:	n/a
31	chr9:6412991-6413041	NB4	blood:	n/a
32	chr9:6412991-6413041	HMEC	breast:	n/a
33	chr9:6412991-6413041	HEK293	kidney:	embryo
34	chr9:6412991-6413041	HCF	heart:	n/a
35	chr9:6412991-6413041	T-47D	breast:	n/a
36	chr9:6412991-6413041	SKMC	muscle:	n/a
37	chr9:6412991-6413041	HRPEpiC	eye:	n/a
38	chr9:6412991-6413041	HL-60	blood:	n/a
39	chr9:6412991-6413041	IMR90	lung:	fetal
40	chr9:6412991-6413041	BE2_C	brain:	n/a
41	chr9:6412991-6413041	NH-A	brain:	n/a
42	chr9:6412991-6413041	CMK	blood:	n/a
43	chr9:6412991-6413041	K562	blood:	n/a
44	chr9:6412991-6413041	HUVEC	blood vessel:	n/a
45	chr9:6412991-6413041	GM19239	blood:	n/a
46	chr9:6412991-6413041	AG10803	skin:	n/a
47	chr9:6412991-6413041	SAEC	small airway:	n/a
48	chr9:6412991-6413041	LNCaP	prostate:	n/a
49	chr9:6412991-6413041	Hela-S3	cervix:	n/a
50	chr9:6412991-6413041	MCF-7	breast:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:6410972..6413613-chr9:6564070..6565701,2	MCF-7	breast:
2	chr9:6411580..6414419-chr9:6755713..6757647,2	K562	blood:
3	chr9:6411739..6415458-chr9:6420668..6426596,8	K562	blood:
4	chr15:44718353..44719694-chr9:6411917..6413110,3	NB4	blood:
5	chr7:108210164..108210733-chr9:6413005..6413576,2	Hela-S3	cervix:
6	chr9:6412168..6415418-chr9:6418500..6425043,7	MCF-7	breast:
7	chr9:6411889..6413422-chr9:6565833..6568598,2	K562	blood:
8	chr9:6412621..6414719-chr9:6496485..6499094,2	K562	blood:

No data

Variant related genes	Relation type
UHRF2	TF binding region
UHRF2	CpG island
ENSG00000147854	Chromatin interaction
ENSG00000259595	Chromatin interaction
ENSG00000177683	Chromatin interaction
ENSG00000178445	Chromatin interaction
ENSG00000137770	Chromatin interaction
ENSG00000252110	Chromatin interaction
ENSG00000128590	Chromatin interaction
ENSG00000107077	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10114583	1.00[AMR][1000 genomes]
rs10119195	1.00[AMR][1000 genomes]
rs10283682	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28448281	1.00[AMR][1000 genomes]
rs56270454	1.00[AMR][1000 genomes]
rs59140789	1.00[AMR][1000 genomes]
rs59493569	1.00[AMR][1000 genomes]
rs61113106	1.00[AMR][1000 genomes]
rs7032806	1.00[AMR][1000 genomes]
rs7047585	1.00[AMR][1000 genomes]
rs73642515	1.00[AMR][1000 genomes]
rs73642517	1.00[AMR][1000 genomes]
rs73642519	1.00[AMR][1000 genomes]
rs7863207	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948847	chr9:5712626-6417677	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv933124	chr9:6099101-6644738	Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1029000	chr9:6188652-6687205	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	nsv1031459	chr9:6216913-6657192	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv948562	chr9:6222553-6684955	Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
8	nsv1032350	chr9:6328167-6630686	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv892160	chr9:6364449-6506038	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv892161	chr9:6364449-6523056	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv831497	chr9:6377501-6612402	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv1023419	chr9:6393886-6415025	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	esv3440128	chr9:6412477-6415325	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6411800-6414200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr9:6411800-6414800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr9:6411800-6415200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr9:6411800-6415600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr9:6412000-6414600	Active TSS	Brain Cingulate Gyrus	brain
6	chr9:6412200-6414200	Active TSS	H1 Cell Line	embryonic stem cell
7	chr9:6412200-6414200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr9:6412200-6414200	Active TSS	Duodenum Mucosa	Duodenum
9	chr9:6412200-6414400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr9:6412200-6414400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr9:6412200-6414400	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr9:6412200-6414600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:6412200-6414600	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr9:6412200-6414600	Active TSS	Brain Substantia Nigra	brain
15	chr9:6412200-6414600	Active TSS	Colonic Mucosa	Colon
16	chr9:6412200-6414600	Active TSS	Colon Smooth Muscle	Colon
17	chr9:6412200-6414600	Active TSS	Fetal Heart	heart
18	chr9:6412200-6414600	Active TSS	Fetal Lung	lung
19	chr9:6412200-6414600	Active TSS	Rectal Smooth Muscle	rectum
20	chr9:6412200-6414600	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr9:6412200-6414600	Active TSS	Osteobl	bone
22	chr9:6412200-6414800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:6412200-6414800	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr9:6412200-6414800	Active TSS	Brain Hippocampus Middle	brain
25	chr9:6412200-6414800	Active TSS	Fetal Kidney	kidney
26	chr9:6412200-6414800	Active TSS	Left Ventricle	heart
27	chr9:6412200-6415200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:6412200-6415200	Active TSS	Aorta	Aorta
29	chr9:6412200-6415200	Active TSS	Right Atrium	heart
30	chr9:6412200-6415400	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr9:6412200-6415400	Active TSS	Fetal Intestine Large	intestine
32	chr9:6412200-6415400	Active TSS	Ovary	ovary
33	chr9:6412200-6415400	Active TSS	Psoas Muscle	Psoas
34	chr9:6412200-6415800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:6412400-6414200	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr9:6412400-6414200	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr9:6412400-6414400	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr9:6412400-6414400	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr9:6412400-6414600	Active TSS	Esophagus	oesophagus
40	chr9:6412400-6414600	Active TSS	Gastric	stomach
41	chr9:6412400-6414600	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr9:6412400-6414600	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr9:6412400-6414600	Active TSS	Small Intestine	intestine
44	chr9:6412400-6414600	Active TSS	Stomach Mucosa	stomach
45	chr9:6412400-6414800	Active TSS	Brain Angular Gyrus	brain
46	chr9:6412400-6414800	Active TSS	Fetal Stomach	stomach
47	chr9:6412400-6415000	Active TSS	HSMM	muscle
48	chr9:6412400-6415200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr9:6412400-6415200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr9:6412400-6415200	Active TSS	Right Ventricle	heart

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