Variant report

Variant	rs7964357
Chromosome Location	chr12:122331128-122331129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr12:122330909-122331497	K562	blood:	n/a	n/a
2	RFX5	chr12:122331077-122331392	K562	blood:	n/a	n/a
3	ZNF143	chr12:122330994-122331423	K562	blood:	n/a	n/a
4	EP300	chr12:122330935-122331336	K562	blood:	n/a	n/a
5	NRF1	chr12:122330950-122331409	K562	blood:	n/a	n/a
6	MAX	chr12:122330934-122331893	K562	blood:	n/a	n/a
7	ZMIZ1	chr12:122331119-122331416	K562	blood:	n/a	n/a
8	JUND	chr12:122331004-122331390	K562	blood:	n/a	n/a
9	GTF2F1	chr12:122331018-122331133	K562	blood:	n/a	n/a
10	TAL1	chr12:122330900-122331351	K562	blood:	n/a	n/a
11	NFE2	chr12:122330970-122331326	K562	blood:	n/a	chr12:122331145-122331160
12	POLR2A	chr12:122330999-122331274	K562	blood:	n/a	n/a
13	YY1	chr12:122331057-122331379	K562	blood:	n/a	n/a
14	MYC	chr12:122330991-122331321	K562	blood:	n/a	n/a
15	ZNF384	chr12:122331056-122331328	K562	blood:	n/a	n/a
16	MYC	chr12:122330986-122331382	K562	blood:	n/a	n/a
17	TBL1XR1	chr12:122331062-122331341	K562	blood:	n/a	n/a
18	RCOR1	chr12:122331018-122331373	K562	blood:	n/a	n/a
19	POLR2A	chr12:122330983-122331418	K562	blood:	n/a	n/a
20	ATF1	chr12:122330991-122331538	K562	blood:	n/a	n/a
21	CUX1	chr12:122330787-122331337	K562	blood:	n/a	n/a
22	MAFF	chr12:122330873-122331419	K562	blood:	n/a	n/a
23	POLR2A	chr12:122331023-122331412	K562	blood:	n/a	n/a
24	BHLHE40	chr12:122330994-122331299	K562	blood:	n/a	n/a
25	REST	chr12:122331063-122331380	K562	blood:	n/a	chr12:122331199-122331217
26	ARID3A	chr12:122330711-122331288	K562	blood:	n/a	n/a
27	MAZ	chr12:122331061-122331433	K562	blood:	n/a	n/a
28	MAX	chr12:122331078-122331309	K562	blood:	n/a	n/a
29	CHD2	chr12:122331049-122331165	K562	blood:	n/a	n/a
30	TEAD4	chr12:122330974-122331497	K562	blood:	n/a	n/a
31	UBTF	chr12:122330925-122331480	K562	blood:	n/a	n/a
32	HCFC1	chr12:122331043-122331300	K562	blood:	n/a	n/a
33	TBL1XR1	chr12:122331092-122331397	K562	blood:	n/a	n/a
34	UBTF	chr12:122331095-122331315	K562	blood:	n/a	n/a
35	BACH1	chr12:122330929-122331342	K562	blood:	n/a	n/a
36	SMC3	chr12:122330997-122331258	K562	blood:	n/a	n/a
37	TBP	chr12:122331036-122331380	K562	blood:	n/a	n/a
38	MAFK	chr12:122330928-122331476	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122228836..122242951-chr12:122324438..122335797,34	K562	blood:
2	chr12:122331116..122333896-chr12:122352806..122354784,2	MCF-7	breast:
3	chr12:122325172..122329151-chr12:122329541..122333817,7	MCF-7	breast:
4	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:
5	chr12:122231564..122242843-chr12:122324518..122333366,33	K562	blood:
6	chr12:122216844..122219009-chr12:122328314..122331162,2	K562	blood:
7	chr12:122228992..122246947-chr12:122322343..122339116,70	MCF-7	breast:

No data

Variant related genes	Relation type
PSMD9	TF binding region
ENSG00000256950	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11043231	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043249	0.92[EUR][1000 genomes]
rs11043252	0.81[YRI][hapmap];0.92[EUR][1000 genomes]
rs11043253	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11043254	0.92[EUR][1000 genomes]
rs12228603	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3741586	0.96[EUR][1000 genomes]
rs58504997	0.92[EUR][1000 genomes]
rs59325626	0.92[EUR][1000 genomes]
rs6486785	0.92[EUR][1000 genomes]
rs7486904	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978966	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers 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	35 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	chr12:122327400-122333000	Weak transcription	Aorta	Aorta
2	chr12:122327400-122340800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:122327600-122331600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:122327600-122331600	Weak transcription	Esophagus	oesophagus
5	chr12:122327600-122340600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:122327800-122331200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:122327800-122331200	Weak transcription	Fetal Kidney	kidney
8	chr12:122327800-122331400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:122327800-122331400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:122327800-122331600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:122327800-122331600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:122327800-122331600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:122327800-122332800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:122327800-122337400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:122327800-122341000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:122328000-122331600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:122328000-122332400	Enhancers	Fetal Intestine Large	intestine
18	chr12:122328200-122331200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:122328200-122331200	Weak transcription	Placenta	Placenta
20	chr12:122328200-122331200	Weak transcription	HSMM	muscle
21	chr12:122328200-122331200	Weak transcription	NH-A	brain
22	chr12:122328200-122331400	Weak transcription	Spleen	Spleen
23	chr12:122328200-122331400	Weak transcription	HSMMtube	muscle
24	chr12:122328200-122331400	Weak transcription	HUVEC	blood vessel
25	chr12:122328200-122332000	Weak transcription	Brain Germinal Matrix	brain
26	chr12:122328200-122332400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr12:122328200-122332600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:122328200-122332800	Weak transcription	Fetal Lung	lung
29	chr12:122328200-122333000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:122328200-122333000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:122328200-122335800	Weak transcription	Psoas Muscle	Psoas
32	chr12:122328200-122339200	Weak transcription	Right Atrium	heart
33	chr12:122328200-122340000	Weak transcription	Fetal Heart	heart
34	chr12:122328200-122355600	Weak transcription	Fetal Brain Male	brain
35	chr12:122328400-122331200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:122328400-122331200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:122328400-122331200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:122328400-122355600	Strong transcription	Fetal Stomach	stomach
39	chr12:122328600-122331200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:122328600-122331200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:122328600-122331200	Weak transcription	Brain Angular Gyrus	brain
42	chr12:122328600-122331400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:122328600-122332800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:122328600-122332800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr12:122328600-122333400	Weak transcription	Ovary	ovary
46	chr12:122328800-122331200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:122328800-122331600	Weak transcription	Brain Anterior Caudate	brain
48	chr12:122328800-122331600	Weak transcription	Small Intestine	intestine
49	chr12:122328800-122332200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr12:122328800-122332200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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