Variant report

Variant	rs625531
Chromosome Location	chr12:74932565-74932566
allele	C/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	POLR2A	chr12:74931200-74936073	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:74931310-74933110	HL-60	blood:	n/a	n/a
3	CTCF	chr12:74932440-74932590	HEK293	kidney:	n/a	n/a
4	POLR2A	chr12:74931151-74933337	GM18505	blood:	n/a	n/a
5	CHD1	chr12:74930901-74933411	IMR90	lung:	n/a	n/a
6	TBP	chr12:74931189-74932928	K562	blood:	n/a	n/a
7	CHD2	chr12:74932391-74932672	K562	blood:	n/a	n/a
8	CTCF	chr12:74932420-74932570	GM12873	blood:	n/a	n/a
9	HA-E2F1	chr12:74931278-74933877	MCF-7	breast:	n/a	chr12:74931774-74931784 chr12:74931773-74931782 chr12:74931642-74931649 chr12:74931547-74931556
10	SIN3A	chr12:74931173-74932770	H1-hESC	embryonic stem cell:	n/a	chr12:74931816-74931829
11	POLR2A	chr12:74931300-74932673	HL-60	blood:	n/a	n/a
12	CTCF	chr12:74932420-74932570	GM12864	blood:	n/a	n/a
13	CTCF	chr12:74932420-74932570	HCFaa	heart:	n/a	n/a
14	REST	chr12:74930995-74932711	H1-neurons	neurons:	n/a	chr12:74931502-74931522 chr12:74931502-74931522 chr12:74931816-74931836
15	POLR2A	chr12:74931260-74932776	GM12878	blood:	n/a	n/a
16	POLR2A	chr12:74931069-74932593	GM19099	blood:	n/a	n/a
17	MXI1	chr12:74930680-74934315	SK-N-SH	brain:	n/a	chr12:74932789-74932798
18	CTCF	chr12:74932460-74932610	GM12872	blood:	n/a	n/a
19	MYC	chr12:74931057-74933117	K562	blood:	n/a	chr12:74932790-74932800 chr12:74932789-74932800 chr12:74932790-74932799 chr12:74932788-74932801 chr12:74932790-74932800 chr12:74932788-74932801 chr12:74932786-74932801 chr12:74932789-74932800 chr12:74932791-74932800 chr12:74932792-74932799 chr12:74932789-74932800 chr12:74932789-74932798 chr12:74932788-74932801
20	TCF7L2	chr12:74931076-74933168	Hela-S3	cervix:	n/a	chr12:74932622-74932638
21	ZEB1	chr12:74932291-74932720	GM12878	blood:	n/a	chr12:74932488-74932495 chr12:74932487-74932496 chr12:74932484-74932497
22	CTCF	chr12:74932350-74932639	GM12878	blood:	n/a	n/a
23	CTCF	chr12:74930750-74933046	SK-N-SH	brain:	n/a	chr12:74931174-74931187 chr12:74931167-74931188 chr12:74931172-74931190 chr12:74931177-74931185 chr12:74931173-74931189
24	MAZ	chr12:74932469-74932669	K562	blood:	n/a	n/a
25	USF2	chr12:74931898-74933602	Hela-S3	cervix:	n/a	n/a
26	MAX	chr12:74930744-74933122	A549	lung:	n/a	chr12:74932790-74932800 chr12:74932789-74932800 chr12:74932790-74932799 chr12:74932788-74932801 chr12:74932790-74932800 chr12:74932788-74932801 chr12:74932786-74932801 chr12:74932789-74932800 chr12:74932791-74932800 chr12:74932792-74932799 chr12:74932789-74932800 chr12:74932789-74932798 chr12:74932788-74932801
27	MAX	chr12:74931144-74932975	K562	blood:	n/a	chr12:74932790-74932800 chr12:74932789-74932800 chr12:74932790-74932799 chr12:74932788-74932801 chr12:74932790-74932800 chr12:74932788-74932801 chr12:74932786-74932801 chr12:74932789-74932800 chr12:74932791-74932800 chr12:74932792-74932799 chr12:74932789-74932800 chr12:74932789-74932798 chr12:74932788-74932801
28	CTCF	chr12:74932480-74932630	GM12864	blood:	n/a	n/a
29	MXI1	chr12:74931028-74932974	GM12878	blood:	n/a	chr12:74932789-74932798
30	GABPA	chr12:74931316-74932685	MCF-7	breast:	n/a	chr12:74931546-74931555 chr12:74931543-74931557 chr12:74931546-74931560 chr12:74931546-74931557
31	POLR2A	chr12:74931110-74940575	MCF10A-Er-Src	breast:	n/a	n/a
32	MAX	chr12:74931341-74932936	HepG2	liver:	n/a	chr12:74932790-74932800 chr12:74932789-74932800 chr12:74932790-74932799 chr12:74932788-74932801 chr12:74932790-74932800 chr12:74932788-74932801 chr12:74932786-74932801 chr12:74932789-74932800 chr12:74932791-74932800 chr12:74932792-74932799 chr12:74932789-74932800 chr12:74932789-74932798 chr12:74932788-74932801
33	POLR2A	chr12:74931116-74935658	SK-N-MC	brain:	n/a	n/a
34	E2F6	chr12:74931442-74933087	K562	blood:	n/a	chr12:74931774-74931784 chr12:74931773-74931782 chr12:74931642-74931649 chr12:74931547-74931556
35	MAFK	chr12:74932417-74932979	K562	blood:	n/a	n/a
36	CTCF	chr12:74932420-74932570	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr12:74932480-74932630	GM12867	blood:	n/a	n/a
38	POLR2A	chr12:74932302-74932648	GM12878	blood:	n/a	n/a
39	POLR2A	chr12:74931201-74935166	GM12878	blood:	n/a	n/a
40	POLR2A	chr12:74931286-74933257	GM19193	blood:	n/a	n/a
41	POLR2A	chr12:74931358-74932590	HepG2	liver:	n/a	n/a
42	RFX5	chr12:74931006-74932836	Hela-S3	cervix:	n/a	n/a
43	MAX	chr12:74932282-74933248	K562	blood:	n/a	chr12:74932790-74932800 chr12:74932789-74932800 chr12:74932790-74932799 chr12:74932788-74932801 chr12:74932790-74932800 chr12:74932788-74932801 chr12:74932786-74932801 chr12:74932789-74932800 chr12:74932791-74932800 chr12:74932792-74932799 chr12:74932789-74932800 chr12:74932789-74932798 chr12:74932788-74932801
44	WRNIP1	chr12:74931153-74935222	GM12878	blood:	n/a	n/a
45	BHLHE40	chr12:74932488-74932569	K562	blood:	n/a	n/a
46	SIN3AK20	chr12:74931088-74933432	MCF-7	breast:	n/a	n/a
47	POLR2A	chr12:74931084-74932672	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr12:74932320-74932633	GM12878	blood:	n/a	n/a
49	PML	chr12:74931048-74932699	GM12878	blood:	n/a	chr12:74932652-74932660
50	GTF2F1	chr12:74931032-74932930	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:74686465..74688529-chr12:74932040..74934610,2	K562	blood:

Variant related genes	Relation type
ENSG00000257386	TF binding region
ENSG00000251138	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1037887	1.00[AFR][1000 genomes]
rs1389486	0.83[AFR][1000 genomes]
rs1389487	0.83[AFR][1000 genomes]
rs1389489	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1389490	1.00[AFR][1000 genomes]
rs1389491	1.00[AFR][1000 genomes]
rs1493798	1.00[AFR][1000 genomes]
rs1493804	1.00[AFR][1000 genomes]
rs1493807	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1563930	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1870699	1.00[AFR][1000 genomes]
rs1873987	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1873988	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2007674	1.00[AFR][1000 genomes]
rs2029717	1.00[AFR][1000 genomes]
rs2219608	1.00[AFR][1000 genomes]
rs2249335	0.83[AFR][1000 genomes]
rs2252250	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2605360	1.00[AFR][1000 genomes]
rs2605379	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2605380	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2613880	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2613892	1.00[AFR][1000 genomes]
rs2613896	1.00[AFR][1000 genomes]
rs2613899	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2641465	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2925223	1.00[AFR][1000 genomes]
rs2925224	1.00[AFR][1000 genomes]
rs2926807	1.00[AFR][1000 genomes]
rs588875	1.00[AFR][1000 genomes]
rs590166	1.00[AFR][1000 genomes]
rs596999	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs663854	1.00[AFR][1000 genomes]
rs694314	1.00[AFR][1000 genomes]
rs822806	1.00[YRI][hapmap]
rs822809	1.00[YRI][hapmap]
rs922222	0.83[AFR][1000 genomes]
rs970236	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv899292	chr12:74835107-74934162	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv899293	chr12:74835107-74995760	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv899295	chr12:74854750-74984992	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv470303	chr12:74880668-74945356	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	n/a
6	nsv899296	chr12:74880668-74974630	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	5 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	chr12:74930600-74932800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:74930800-74932600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:74930800-74932600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:74930800-74932600	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr12:74930800-74932600	Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr12:74930800-74932600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:74930800-74932600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr12:74930800-74932600	Active TSS	Placenta Amnion	Placenta Amnion
9	chr12:74930800-74932600	Active TSS	GM12878-XiMat	blood
10	chr12:74930800-74932800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:74930800-74932800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:74931000-74932600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:74931000-74932600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:74931000-74932600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr12:74931000-74932600	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr12:74931000-74932600	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr12:74931000-74932600	Active TSS	Fetal Heart	heart
18	chr12:74931000-74932600	Active TSS	Fetal Intestine Large	intestine
19	chr12:74931000-74932600	Active TSS	K562	blood
20	chr12:74931000-74932800	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr12:74931000-74932800	Active TSS	Fetal Intestine Small	intestine
22	chr12:74931000-74932800	Active TSS	Fetal Kidney	kidney
23	chr12:74931200-74932600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr12:74931200-74932600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:74931200-74932600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:74931200-74932600	Active TSS	Stomach Mucosa	stomach
27	chr12:74931200-74932800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:74931200-74932800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:74931200-74932800	Active TSS	Aorta	Aorta
30	chr12:74931200-74932800	Active TSS	Ovary	ovary
31	chr12:74931200-74933000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:74931200-74934000	Active TSS	H9 Cell Line	embryonic stem cell
33	chr12:74931400-74932600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:74931400-74932800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:74931400-74932800	Active TSS	Pancreas	Pancrea
36	chr12:74931400-74932800	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr12:74931600-74932600	Active TSS	Small Intestine	intestine
38	chr12:74931600-74932800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:74931600-74932800	Active TSS	Gastric	stomach
40	chr12:74931800-74932600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr12:74931800-74933600	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr12:74931800-74934000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
43	chr12:74932000-74932800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr12:74932000-74932800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:74932000-74932800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:74932000-74932800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:74932000-74932800	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr12:74932000-74933000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr12:74932000-74933600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr12:74932000-74934000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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