Variant report

Variant	rs7304175
Chromosome Location	chr12:105478337-105478338
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	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	chr12:105478027-105478373	HUVEC	blood vessel:	n/a	n/a
21	MAZ	chr12:105477239-105478787	IMR90	lung:	n/a	chr12:105477508-105477517
22	TBP	chr12:105477493-105478446	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr12:105477726-105478651	Gliobla	brain:	n/a	n/a
24	POLR2A	chr12:105478086-105478397	A549	lung:	n/a	n/a
25	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
26	CREB1	chr12:105478023-105478648	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr12:105478103-105478383	A549	lung:	n/a	n/a
28	HCFC1	chr12:105477914-105478362	K562	blood:	n/a	n/a
29	MAX	chr12:105477991-105478537	MCF-7	breast:	n/a	n/a
30	TAF1	chr12:105478064-105478404	SK-N-SH	brain:	n/a	n/a
31	ZBTB7A	chr12:105478167-105478417	K562	blood:	n/a	n/a
32	POLR2A	chr12:105477744-105478601	H1-hESC	embryonic stem cell:	n/a	n/a
33	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
34	MAX	chr12:105477994-105478710	H1-hESC	embryonic stem cell:	n/a	n/a
35	SIN3AK20	chr12:105478087-105478364	H1-hESC	embryonic stem cell:	n/a	n/a
36	TAF1	chr12:105478000-105478493	H1-hESC	embryonic stem cell:	n/a	n/a
37	SMARCB1	chr12:105477507-105478751	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr12:105478028-105478391	GM12878	blood:	n/a	n/a
39	POLR2A	chr12:105478039-105478632	A549	lung:	n/a	n/a
40	POLR2A	chr12:105478008-105478374	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr12:105478042-105478374	HCT-116	colon:	n/a	n/a
42	MAX	chr12:105477970-105478682	H1-hESC	embryonic stem cell:	n/a	n/a
43	E2F6	chr12:105476903-105478445	K562	blood:	n/a	chr12:105478098-105478110
44	MXI1	chr12:105476576-105478872	SK-N-SH	brain:	n/a	chr12:105477034-105477043 chr12:105477194-105477209
45	GABPA	chr12:105478102-105478620	H1-hESC	embryonic stem cell:	n/a	n/a
46	UBTF	chr12:105478124-105478352	K562	blood:	n/a	n/a
47	POLR2A	chr12:105478105-105478408	A549	lung:	n/a	n/a
48	RCOR1	chr12:105478086-105478381	Hela-S3	cervix:	n/a	n/a
49	CBX3	chr12:105478032-105478372	K562	blood:	n/a	n/a
50	POLR2A	chr12:105478060-105478448	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:105478329-105478379	PrEC	prostate:	n/a
2	chr12:105478329-105478379	MCF-7	breast:	n/a
3	chr12:105478329-105478379	HUVEC	blood vessel:	n/a
4	chr12:105478329-105478379	Jurkat	blood:	n/a
5	chr12:105478329-105478379	HAEpiC	amniotic membrane:	n/a
6	chr12:105478329-105478379	HL-60	blood:	n/a
7	chr12:105478329-105478379	GM12892	blood:	n/a
8	chr12:105478329-105478379	RPTEC	kidney:	n/a
9	chr12:105478329-105478379	K562	blood:	n/a
10	chr12:105478329-105478379	ECC-1	luminal epithelium:	n/a
11	chr12:105478329-105478379	PFSK-1	brain:	n/a
12	chr12:105478329-105478379	GM12878	blood:	n/a
13	chr12:105478329-105478379	NHDF-neo	bronchial:	n/a
14	chr12:105478329-105478379	HCT-116	colon:	n/a
15	chr12:105478329-105478379	PANC-1	pancreas:	n/a
16	chr12:105478329-105478379	AG04449	skin:	fetal
17	chr12:105478329-105478379	H1-hESC	embryonic stem cell:	embryo
18	chr12:105478329-105478379	IMR90	lung:	fetal
19	chr12:105478329-105478379	NHBE	bronchial:	n/a
20	chr12:105478329-105478379	LNCaP	prostate:	n/a
21	chr12:105478329-105478379	HIPEpiC	eye:	n/a
22	chr12:105478329-105478379	HRCEpiC	kidney:	n/a
23	chr12:105478329-105478379	HCPEpiC	choroid plexus:	n/a
24	chr12:105478329-105478379	AG09319	gingival:	n/a
25	chr12:105478329-105478379	Caco-2	colon:	n/a
26	chr12:105478329-105478379	HEEpiC	esophagus:	n/a
27	chr12:105478329-105478379	AG04450	lung:	fetal
28	chr12:105478329-105478379	SAEC	small airway:	n/a
29	chr12:105478329-105478379	BJ	skin:	n/a
30	chr12:105478329-105478379	HNPCEpiC	eye:	n/a
31	chr12:105478329-105478379	GM19239	blood:	n/a
32	chr12:105478329-105478379	NT2-D1	testis:	n/a
33	chr12:105478329-105478379	ovcar-3	ovarian:	n/a
34	chr12:105478329-105478379	AG09309	skin:	n/a
35	chr12:105478329-105478379	T-47D	breast:	n/a
36	chr12:105478329-105478379	MCF10A-Er-Src	breast:	n/a
37	chr12:105478329-105478379	NH-A	brain:	n/a
38	chr12:105478329-105478379	A549	lung:	n/a
39	chr12:105478329-105478379	ProgFib	skin:	n/a
40	chr12:105478329-105478379	AoSMC	blood vessel:	n/a
41	chr12:105478329-105478379	Hepatocyte	liver:	n/a
42	chr12:105478329-105478379	CMK	blood:	n/a
43	chr12:105478329-105478379	HEK293	kidney:	embryo
44	chr12:105478329-105478379	GM12891	blood:	n/a
45	chr12:105478329-105478379	HRPEpiC	eye:	n/a
46	chr12:105478329-105478379	SK-N-SH	brain:	n/a
47	chr12:105478329-105478379	GM06990	blood:	n/a
48	chr12:105478329-105478379	HMEC	breast:	n/a
49	chr12:105478329-105478379	AG10803	skin:	n/a
50	chr12:105478329-105478379	SK-N-MC	brain:	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
ALDH1L2	CpG island
ENSG00000257999	Chromatin interaction
ENSG00000136051	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1882148	1.00[EUR][1000 genomes]
rs3763991	1.00[EUR][1000 genomes]
rs57393988	1.00[EUR][1000 genomes]
rs57448746	1.00[EUR][1000 genomes]
rs57456392	1.00[EUR][1000 genomes]
rs57618699	1.00[EUR][1000 genomes]
rs58301361	1.00[EUR][1000 genomes]
rs58969183	1.00[EUR][1000 genomes]
rs59143432	1.00[EUR][1000 genomes]
rs59811168	1.00[EUR][1000 genomes]
rs59840770	1.00[EUR][1000 genomes]
rs59935781	1.00[EUR][1000 genomes]
rs59955900	1.00[EUR][1000 genomes]
rs60167837	1.00[EUR][1000 genomes]
rs60230439	1.00[EUR][1000 genomes]
rs60294187	1.00[EUR][1000 genomes]
rs60495600	1.00[EUR][1000 genomes]
rs60725801	1.00[EUR][1000 genomes]
rs61042175	1.00[EUR][1000 genomes]
rs61336075	1.00[EUR][1000 genomes]
rs61437377	1.00[EUR][1000 genomes]
rs7294681	1.00[EUR][1000 genomes]
rs7297845	1.00[EUR][1000 genomes]
rs7307834	1.00[EUR][1000 genomes]
rs7314155	1.00[EUR][1000 genomes]
rs73393833	1.00[EUR][1000 genomes]
rs73393835	1.00[EUR][1000 genomes]
rs73393837	1.00[EUR][1000 genomes]
rs73393841	1.00[EUR][1000 genomes]
rs73393842	1.00[EUR][1000 genomes]
rs73393866	1.00[EUR][1000 genomes]
rs73393869	1.00[EUR][1000 genomes]
rs73393881	1.00[EUR][1000 genomes]
rs73393882	1.00[EUR][1000 genomes]
rs73395723	1.00[EUR][1000 genomes]
rs73395740	1.00[EUR][1000 genomes]
rs73395744	1.00[EUR][1000 genomes]
rs73395745	1.00[EUR][1000 genomes]
rs73395746	1.00[EUR][1000 genomes]
rs73395758	1.00[EUR][1000 genomes]
rs73395770	1.00[EUR][1000 genomes]
rs73395771	1.00[EUR][1000 genomes]
rs73395772	1.00[EUR][1000 genomes]
rs73395783	1.00[EUR][1000 genomes]
rs73395785	1.00[EUR][1000 genomes]
rs73397621	1.00[EUR][1000 genomes]
rs73397624	1.00[EUR][1000 genomes]
rs73397654	1.00[EUR][1000 genomes]
rs73397655	1.00[EUR][1000 genomes]
rs73397656	1.00[EUR][1000 genomes]
rs73397659	1.00[EUR][1000 genomes]
rs73397660	1.00[EUR][1000 genomes]
rs73397661	1.00[EUR][1000 genomes]
rs73397663	1.00[EUR][1000 genomes]
rs73397672	1.00[EUR][1000 genomes]
rs73397677	1.00[EUR][1000 genomes]
rs73397678	1.00[EUR][1000 genomes]
rs73397680	1.00[EUR][1000 genomes]
rs73397683	1.00[EUR][1000 genomes]
rs73397685	1.00[EUR][1000 genomes]
rs73397687	1.00[EUR][1000 genomes]
rs73397688	1.00[EUR][1000 genomes]
rs73397690	1.00[EUR][1000 genomes]
rs73397700	1.00[EUR][1000 genomes]
rs73397701	1.00[EUR][1000 genomes]
rs73399708	1.00[EUR][1000 genomes]
rs73399717	1.00[EUR][1000 genomes]
rs73399720	1.00[EUR][1000 genomes]
rs73399724	1.00[EUR][1000 genomes]
rs73399728	1.00[EUR][1000 genomes]
rs73399730	1.00[EUR][1000 genomes]
rs7959931	1.00[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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