Variant report

Variant	rs7303961
Chromosome Location	chr12:105478327-105478328
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	chr12:105478061-105478497	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr12:105478128-105478392	HCT-116	colon:	n/a	n/a
3	RCOR1	chr12:105478130-105478602	K562	blood:	n/a	n/a
4	POLR2A	chr12:105478137-105478340	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr12:105478116-105478340	K562	blood:	n/a	n/a
6	SIN3AK20	chr12:105477975-105478714	SK-N-SH	brain:	n/a	n/a
7	ELF1	chr12:105477993-105478723	GM12878	blood:	n/a	chr12:105478242-105478251
8	MXI1	chr12:105477688-105478638	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr12:105478183-105478353	MCF-7	breast:	n/a	n/a
10	TBP	chr12:105478129-105478396	K562	blood:	n/a	n/a
11	POLR2A	chr12:105476419-105478440	MCF10A-Er-Src	breast:	n/a	n/a
12	TCF12	chr12:105477456-105478709	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr12:105478074-105478405	A549	lung:	n/a	n/a
14	TAF7	chr12:105477956-105478396	H1-hESC	embryonic stem cell:	n/a	n/a
15	MYC	chr12:105478127-105478427	MCF10A-Er-Src	breast:	n/a	n/a
16	MAX	chr12:105476810-105478636	ECC-1	luminal epithelium:	n/a	chr12:105477033-105477042 chr12:105477032-105477043 chr12:105477508-105477517 chr12:105477032-105477043 chr12:105477028-105477047 chr12:105477032-105477042 chr12:105477032-105477042 chr12:105477033-105477042 chr12:105477033-105477042 chr12:105477032-105477043 chr12:105477031-105477046
17	MAX	chr12:105478064-105478538	SK-N-SH	brain:	n/a	n/a
18	HEY1	chr12:105478082-105478355	K562	blood:	n/a	chr12:105478094-105478109 chr12:105478240-105478255
19	E2F6	chr12:105478037-105478412	K562	blood:	n/a	chr12:105478098-105478110
20	POLR2A	chr12:105478133-105478327	K562	blood:	n/a	n/a
21	POLR2A	chr12:105478027-105478373	HUVEC	blood vessel:	n/a	n/a
22	MAZ	chr12:105477239-105478787	IMR90	lung:	n/a	chr12:105477508-105477517
23	TBP	chr12:105477493-105478446	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr12:105477726-105478651	Gliobla	brain:	n/a	n/a
25	POLR2A	chr12:105478086-105478397	A549	lung:	n/a	n/a
26	MAX	chr12:105476829-105478423	K562	blood:	n/a	chr12:105477033-105477042 chr12:105477032-105477043 chr12:105477508-105477517 chr12:105477032-105477043 chr12:105477028-105477047 chr12:105477032-105477042 chr12:105477032-105477042 chr12:105477033-105477042 chr12:105477033-105477042 chr12:105477032-105477043 chr12:105477031-105477046
27	CREB1	chr12:105478023-105478648	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr12:105478103-105478383	A549	lung:	n/a	n/a
29	YY1	chr12:105478133-105478330	K562	blood:	n/a	chr12:105478243-105478254
30	HCFC1	chr12:105477914-105478362	K562	blood:	n/a	n/a
31	MAX	chr12:105477991-105478537	MCF-7	breast:	n/a	n/a
32	TAF1	chr12:105478064-105478404	SK-N-SH	brain:	n/a	n/a
33	ZBTB7A	chr12:105478167-105478417	K562	blood:	n/a	n/a
34	POLR2A	chr12:105477744-105478601	H1-hESC	embryonic stem cell:	n/a	n/a
35	SIN3A	chr12:105477501-105478776	H1-hESC	embryonic stem cell:	n/a	chr12:105477593-105477602 chr12:105478243-105478254 chr12:105478538-105478551 chr12:105478505-105478516 chr12:105478572-105478585 chr12:105478384-105478397
36	MAX	chr12:105477994-105478710	H1-hESC	embryonic stem cell:	n/a	n/a
37	SIN3AK20	chr12:105478087-105478364	H1-hESC	embryonic stem cell:	n/a	n/a
38	TAF1	chr12:105478000-105478493	H1-hESC	embryonic stem cell:	n/a	n/a
39	SMARCB1	chr12:105477507-105478751	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr12:105478028-105478391	GM12878	blood:	n/a	n/a
41	POLR2A	chr12:105478039-105478632	A549	lung:	n/a	n/a
42	POLR2A	chr12:105478008-105478374	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr12:105478042-105478374	HCT-116	colon:	n/a	n/a
44	MAX	chr12:105477970-105478682	H1-hESC	embryonic stem cell:	n/a	n/a
45	E2F6	chr12:105476903-105478445	K562	blood:	n/a	chr12:105478098-105478110
46	MXI1	chr12:105476576-105478872	SK-N-SH	brain:	n/a	chr12:105477034-105477043 chr12:105477194-105477209
47	GABPA	chr12:105478102-105478620	H1-hESC	embryonic stem cell:	n/a	n/a
48	UBTF	chr12:105478124-105478352	K562	blood:	n/a	n/a
49	POLR2A	chr12:105478105-105478408	A549	lung:	n/a	n/a
50	RCOR1	chr12:105478086-105478381	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:105476762..105478986-chr12:105499431..105503042,4	K562	blood:
2	chr12:105476808..105479481-chr12:105501524..105503382,3	K562	blood:
3	chr12:105477772..105479851-chr12:105501425..105505225,4	MCF-7	breast:
4	chr12:105477899..105479847-chr12:105501301..105502988,2	MCF-7	breast:

Variant related genes	Relation type
ALDH1L2	TF binding region
ENSG00000257999	Chromatin interaction
ENSG00000136051	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10746010	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10778367	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10778368	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10778369	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1196742	0.91[EUR][1000 genomes]
rs1196745	0.91[EUR][1000 genomes]
rs1196748	0.91[EUR][1000 genomes]
rs1196749	0.91[EUR][1000 genomes]
rs1196753	0.87[EUR][1000 genomes]
rs1196754	0.87[EUR][1000 genomes]
rs1196756	0.91[EUR][1000 genomes]
rs1196764	0.91[EUR][1000 genomes]
rs1196765	0.90[EUR][1000 genomes]
rs1196770	0.84[EUR][1000 genomes]
rs1196772	0.84[EUR][1000 genomes]
rs1196777	0.83[EUR][1000 genomes]
rs1196798	0.91[EUR][1000 genomes]
rs1196800	0.92[EUR][1000 genomes]
rs1196801	0.92[EUR][1000 genomes]
rs1196805	0.92[EUR][1000 genomes]
rs1196806	0.92[EUR][1000 genomes]
rs1196807	0.92[EUR][1000 genomes]
rs1196808	0.91[EUR][1000 genomes]
rs1196811	0.91[EUR][1000 genomes]
rs1196813	0.92[EUR][1000 genomes]
rs1196817	0.92[EUR][1000 genomes]
rs1196819	0.92[EUR][1000 genomes]
rs1196820	0.92[EUR][1000 genomes]
rs1196823	0.91[EUR][1000 genomes]
rs1196825	0.92[EUR][1000 genomes]
rs1196831	0.92[EUR][1000 genomes]
rs1196833	0.92[EUR][1000 genomes]
rs1196839	0.92[EUR][1000 genomes]
rs1196841	0.92[EUR][1000 genomes]
rs1196842	0.92[EUR][1000 genomes]
rs1196844	0.92[EUR][1000 genomes]
rs1196848	0.92[EUR][1000 genomes]
rs1196851	0.90[EUR][1000 genomes]
rs1196853	0.91[EUR][1000 genomes]
rs1196859	0.94[EUR][1000 genomes]
rs1196861	0.91[EUR][1000 genomes]
rs1196862	0.90[EUR][1000 genomes]
rs1196864	0.91[EUR][1000 genomes]
rs1196869	0.91[EUR][1000 genomes]
rs1196871	0.89[EUR][1000 genomes]
rs1196872	0.90[EUR][1000 genomes]
rs1196873	0.91[EUR][1000 genomes]
rs1196874	0.92[EUR][1000 genomes]
rs1196881	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1196884	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1196885	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1206559	0.92[EUR][1000 genomes]
rs1209308	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1210669	0.81[EUR][1000 genomes]
rs1211276	0.92[EUR][1000 genomes]
rs1211277	0.92[EUR][1000 genomes]
rs1345096	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1621553	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1663565	0.90[EUR][1000 genomes]
rs1732370	0.92[EUR][1000 genomes]
rs2166142	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2246243	0.84[EUR][1000 genomes]
rs2257156	0.90[EUR][1000 genomes]
rs2374449	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2440692	0.89[EUR][1000 genomes]
rs2440714	0.93[EUR][1000 genomes]
rs2440718	0.92[EUR][1000 genomes]
rs2464173	0.92[EUR][1000 genomes]
rs2464175	0.91[EUR][1000 genomes]
rs2464181	0.92[EUR][1000 genomes]
rs2464182	0.89[EUR][1000 genomes]
rs4356312	0.87[EUR][1000 genomes]
rs4356313	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4372534	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4390426	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4964122	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4964331	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6539183	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6539186	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6539187	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6539188	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7132040	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7132624	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7132855	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71441895	0.84[EUR][1000 genomes]
rs7299701	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7302854	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7963877	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs935240	0.92[EUR][1000 genomes]
rs935241	0.92[EUR][1000 genomes]
rs935242	0.92[EUR][1000 genomes]
rs935244	0.84[EUR][1000 genomes]
rs935246	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs935248	0.91[EUR][1000 genomes]
rs935249	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105476600-105478600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:105477000-105478800	Active TSS	Brain Angular Gyrus	brain
3	chr12:105477200-105478400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:105477200-105478400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:105477200-105478400	Active TSS	HMEC	breast
6	chr12:105477200-105478400	Active TSS	HSMMtube	muscle
7	chr12:105477200-105478600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr12:105477200-105478600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:105477200-105478600	Active TSS	Colon Smooth Muscle	Colon
10	chr12:105477200-105478600	Active TSS	NHDF-Ad	bronchial
11	chr12:105477200-105478800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:105477200-105478800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:105477200-105478800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr12:105477200-105478800	Active TSS	HSMM	muscle
15	chr12:105477200-105479000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr12:105477400-105478400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:105477400-105478600	Active TSS	Aorta	Aorta
18	chr12:105477400-105478800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr12:105477400-105478800	Active TSS	Brain Cingulate Gyrus	brain
20	chr12:105477400-105478800	Active TSS	Brain Germinal Matrix	brain
21	chr12:105477400-105478800	Active TSS	Brain Hippocampus Middle	brain
22	chr12:105477400-105478800	Active TSS	NHLF	lung
23	chr12:105477600-105478400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
24	chr12:105477600-105478400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:105477600-105478600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:105477600-105478800	Active TSS	Gastric	stomach
27	chr12:105477600-105478800	Enhancers	Spleen	Spleen
28	chr12:105477800-105478600	Active TSS	H1 Cell Line	embryonic stem cell
29	chr12:105477800-105478600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:105477800-105478600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:105477800-105478600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
32	chr12:105477800-105478600	Active TSS	Fetal Brain Female	brain
33	chr12:105477800-105478600	Active TSS	Ovary	ovary
34	chr12:105477800-105478800	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr12:105478000-105478400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:105478000-105478400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:105478000-105478400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:105478000-105478400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:105478000-105478400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:105478000-105478400	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
41	chr12:105478000-105478400	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr12:105478000-105478400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr12:105478000-105478400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:105478000-105478400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:105478000-105478400	Active TSS	Adipose Nuclei	Adipose
46	chr12:105478000-105478400	Enhancers	Esophagus	oesophagus
47	chr12:105478000-105478400	Active TSS	Left Ventricle	heart
48	chr12:105478000-105478400	Active TSS	Pancreas	Pancrea
49	chr12:105478000-105478400	Active TSS	Placenta Amnion	Placenta Amnion
50	chr12:105478000-105478400	Active TSS	Sigmoid Colon	Sigmoid Colon

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