Variant report

Variant	rs201212995
Chromosome Location	chr9:6412951-6412952
allele	G/T
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	GTF2F1	chr9:6412812-6413358	Hela-S3	cervix:	n/a	n/a
2	BCL11A	chr9:6412600-6413034	GM12878	blood:	n/a	n/a
3	MAX	chr9:6412370-6413748	GM12878	blood:	n/a	chr9:6412718-6412727 chr9:6413671-6413681 chr9:6412905-6412915
4	MAZ	chr9:6412899-6414108	Hela-S3	cervix:	n/a	chr9:6413671-6413681 chr9:6412905-6412915
5	RELA	chr9:6412529-6413464	GM10847	blood:	n/a	n/a
6	POLR2A	chr9:6412828-6413797	H1-neurons	neurons:	n/a	n/a
7	RCOR1	chr9:6412425-6413325	K562	blood:	n/a	n/a
8	POLR2A	chr9:6412744-6414691	MCF10A-Er-Src	breast:	n/a	n/a
9	ELK1	chr9:6412909-6413363	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr9:6412794-6413849	K562	blood:	n/a	n/a
11	POLR2A	chr9:6412592-6414369	GM12878	blood:	n/a	n/a
12	IRF1	chr9:6412878-6413316	K562	blood:	n/a	chr9:6412934-6412947 chr9:6412969-6412982 chr9:6413038-6413052
13	RELA	chr9:6412442-6413425	GM19099	blood:	n/a	n/a
14	POLR2A	chr9:6412266-6414516	GM12878	blood:	n/a	n/a
15	SP4	chr9:6412481-6413319	H1-hESC	embryonic stem cell:	n/a	chr9:6413038-6413054 chr9:6412902-6412918 chr9:6413040-6413051
16	SPI1	chr9:6412908-6413333	GM12878	blood:	n/a	chr9:6413116-6413125 chr9:6413117-6413124
17	SRF	chr9:6412690-6413258	GM12878	blood:	n/a	chr9:6412905-6412915 chr9:6413042-6413052
18	JUND	chr9:6412704-6413375	K562	blood:	n/a	chr9:6412832-6412846
19	MAX	chr9:6412785-6414549	Hela-S3	cervix:	n/a	chr9:6413671-6413681 chr9:6412905-6412915
20	POLR2A	chr9:6412756-6413480	SK-N-SH	brain:	n/a	n/a
21	TCF12	chr9:6412810-6413191	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr9:6412417-6413494	HUVEC	blood vessel:	n/a	chr9:6412718-6412727 chr9:6412905-6412915
23	CBX3	chr9:6412407-6413211	K562	blood:	n/a	n/a
24	SETDB1	chr9:6412502-6413013	U2OS	brain:	n/a	n/a
25	POLR2A	chr9:6412844-6413566	K562	blood:	n/a	n/a
26	TBP	chr9:6412330-6414082	H1-hESC	embryonic stem cell:	n/a	n/a
27	BCLAF1	chr9:6412420-6413716	GM12878	blood:	n/a	chr9:6413655-6413664 chr9:6413653-6413666 chr9:6412547-6412560 chr9:6412552-6412565
28	CHD2	chr9:6412457-6414120	GM12878	blood:	n/a	n/a
29	POU2F2	chr9:6412512-6413329	GM12878	blood:	n/a	n/a
30	YY1	chr9:6412917-6413453	K562	blood:	n/a	n/a
31	STAT1	chr9:6412645-6413546	GM12878	blood:	n/a	n/a
32	YY1	chr9:6412928-6413652	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr9:6412770-6413372	U87	brain:	n/a	n/a
34	TAF1	chr9:6412941-6413366	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr9:6412447-6413671	HUVEC	blood vessel:	n/a	n/a
36	TCF12	chr9:6412488-6413305	GM12878	blood:	n/a	n/a
37	POLR2A	chr9:6412398-6414036	GM15510	blood:	n/a	n/a
38	BACH1	chr9:6412549-6413272	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr9:6412920-6413070	GM12869	blood:	n/a	n/a
40	STAT5A	chr9:6412509-6413260	GM12878	blood:	n/a	n/a
41	POLR2A	chr9:6412760-6413877	ProgFib	skin:	n/a	n/a
42	POLR2A	chr9:6412858-6413363	HepG2	liver:	n/a	n/a
43	YY1	chr9:6412799-6414248	SK-N-SH	brain:	n/a	chr9:6413959-6413973
44	YY1	chr9:6412686-6414215	GM12878	blood:	n/a	chr9:6413959-6413973
45	POLR2A	chr9:6412813-6413862	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr9:6412615-6414140	Raji	blood:	n/a	n/a
47	POLR2A	chr9:6412829-6413378	HepG2	liver:	n/a	n/a
48	SIN3AK20	chr9:6412843-6413399	MCF-7	breast:	n/a	n/a
49	MAX	chr9:6412723-6414338	HepG2	liver:	n/a	chr9:6413671-6413681 chr9:6412905-6412915
50	ELF1	chr9:6412879-6413362	HepG2	liver:	n/a	chr9:6413130-6413142

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	chr2:85132788..85133313-chr9:6412396..6412970,2	NB4	blood:
5	chr15:44718353..44719694-chr9:6411917..6413110,3	NB4	blood:
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:

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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	chr9:6412200-6413000	Flanking Active TSS	Primary B cells from peripheral blood	blood
7	chr9:6412200-6413000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr9:6412200-6413000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:6412200-6413000	Flanking Active TSS	Fetal Muscle Trunk	muscle
10	chr9:6412200-6413000	Flanking Active TSS	Placenta	Placenta
11	chr9:6412200-6413000	Flanking Active TSS	Fetal Thymus	thymus
12	chr9:6412200-6413000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr9:6412200-6413000	Flanking Active TSS	Thymus	Thymus
14	chr9:6412200-6414200	Active TSS	H1 Cell Line	embryonic stem cell
15	chr9:6412200-6414200	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr9:6412200-6414200	Active TSS	Duodenum Mucosa	Duodenum
17	chr9:6412200-6414400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr9:6412200-6414400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr9:6412200-6414400	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr9:6412200-6414600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:6412200-6414600	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr9:6412200-6414600	Active TSS	Brain Substantia Nigra	brain
23	chr9:6412200-6414600	Active TSS	Colonic Mucosa	Colon
24	chr9:6412200-6414600	Active TSS	Colon Smooth Muscle	Colon
25	chr9:6412200-6414600	Active TSS	Fetal Heart	heart
26	chr9:6412200-6414600	Active TSS	Fetal Lung	lung
27	chr9:6412200-6414600	Active TSS	Rectal Smooth Muscle	rectum
28	chr9:6412200-6414600	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr9:6412200-6414600	Active TSS	Osteobl	bone
30	chr9:6412200-6414800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:6412200-6414800	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr9:6412200-6414800	Active TSS	Brain Hippocampus Middle	brain
33	chr9:6412200-6414800	Active TSS	Fetal Kidney	kidney
34	chr9:6412200-6414800	Active TSS	Left Ventricle	heart
35	chr9:6412200-6415200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:6412200-6415200	Active TSS	Aorta	Aorta
37	chr9:6412200-6415200	Active TSS	Right Atrium	heart
38	chr9:6412200-6415400	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr9:6412200-6415400	Active TSS	Fetal Intestine Large	intestine
40	chr9:6412200-6415400	Active TSS	Ovary	ovary
41	chr9:6412200-6415400	Active TSS	Psoas Muscle	Psoas
42	chr9:6412200-6415800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:6412400-6413000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr9:6412400-6413000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:6412400-6413000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr9:6412400-6413000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr9:6412400-6413000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr9:6412400-6413000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr9:6412400-6413000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr9:6412400-6413000	Flanking Active TSS	Liver	Liver

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