Variant report

Variant	rs12635806
Chromosome Location	chr3:67704291-67704292
allele	A/C
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	chr3:67703925-67705390	U87	brain:	n/a	n/a
2	MAX	chr3:67704274-67704714	H1-hESC	embryonic stem cell:	n/a	chr3:67704510-67704520 chr3:67704511-67704520 chr3:67704508-67704521 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704512-67704528 chr3:67704509-67704520 chr3:67704508-67704521 chr3:67704509-67704519 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704509-67704520
3	CHD1	chr3:67703735-67705408	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:67703041-67705477	IMR90	lung:	n/a	n/a
5	POLR2A	chr3:67703977-67705477	GM18526	blood:	n/a	n/a
6	POLR2A	chr3:67704177-67705541	HepG2	liver:	n/a	n/a
7	MAX	chr3:67704123-67705624	A549	lung:	n/a	chr3:67704510-67704520 chr3:67704511-67704520 chr3:67704508-67704521 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704512-67704528 chr3:67704509-67704520 chr3:67704508-67704521 chr3:67704509-67704519 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704509-67704520
8	MAX	chr3:67704276-67705352	MCF-7	breast:	n/a	chr3:67704511-67704520 chr3:67704508-67704521 chr3:67704510-67704519 chr3:67704512-67704528 chr3:67704508-67704521 chr3:67704509-67704520 chr3:67704509-67704520 chr3:67704508-67704521 chr3:67704509-67704519 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704510-67704520
9	MAX	chr3:67704045-67705368	NB4	blood:	n/a	chr3:67704510-67704520 chr3:67704511-67704520 chr3:67704508-67704521 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704512-67704528 chr3:67704509-67704520 chr3:67704508-67704521 chr3:67704509-67704519 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704509-67704520
10	MAX	chr3:67704208-67705672	HepG2	liver:	n/a	chr3:67704510-67704520 chr3:67704511-67704520 chr3:67704508-67704521 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704512-67704528 chr3:67704509-67704520 chr3:67704508-67704521 chr3:67704509-67704519 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704509-67704520
11	MEF2A	chr3:67703346-67704299	GM12878	blood:	n/a	chr3:67703875-67703889 chr3:67703870-67703891 chr3:67703877-67703888 chr3:67703874-67703889 chr3:67703858-67703866 chr3:67703874-67703890
12	POLR2A	chr3:67703060-67706271	HepG2	liver:	n/a	n/a
13	NFIC	chr3:67703316-67704366	GM12878	blood:	n/a	n/a
14	HA-E2F1	chr3:67704288-67705664	MCF-7	breast:	n/a	chr3:67704726-67704736 chr3:67704733-67704742 chr3:67705043-67705052 chr3:67704882-67704892 chr3:67704783-67704793 chr3:67704894-67704904
15	STAT1	chr3:67704128-67704543	GM12878	blood:	n/a	n/a
16	TAF1	chr3:67704282-67705343	A549	lung:	n/a	n/a
17	POLR2A	chr3:67703950-67705613	GM12878	blood:	n/a	n/a
18	MYC	chr3:67703998-67705240	K562	blood:	n/a	chr3:67704510-67704520 chr3:67704511-67704520 chr3:67704508-67704521 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704512-67704528 chr3:67704509-67704520 chr3:67704508-67704521 chr3:67704509-67704519 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704509-67704520
19	TAF1	chr3:67704244-67705548	ECC-1	luminal epithelium:	n/a	n/a
20	JUND	chr3:67704277-67705025	H1-hESC	embryonic stem cell:	n/a	chr3:67704657-67704668
21	POLR2A	chr3:67703304-67705555	GM12892	blood:	n/a	n/a
22	POLR2A	chr3:67704033-67704609	GM12891	blood:	n/a	n/a
23	POLR2A	chr3:67704093-67705422	GM15510	blood:	n/a	n/a
24	USF1	chr3:67704260-67704740	SK-N-SH_RA	brain:	n/a	chr3:67704716-67704732 chr3:67704508-67704519 chr3:67704724-67704740
25	HCFC1	chr3:67703883-67705592	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr3:67704061-67704492	GM12891	blood:	n/a	n/a
27	MAX	chr3:67704181-67705534	Hela-S3	cervix:	n/a	chr3:67704510-67704520 chr3:67704511-67704520 chr3:67704508-67704521 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704512-67704528 chr3:67704509-67704520 chr3:67704508-67704521 chr3:67704509-67704519 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704509-67704520
28	KAP1	chr3:67704150-67705495	HEK293	kidney:	n/a	n/a
29	MYC	chr3:67703978-67705239	MCF10A-Er-Src	breast:	n/a	chr3:67704510-67704520 chr3:67704511-67704520 chr3:67704508-67704521 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704512-67704528 chr3:67704509-67704520 chr3:67704508-67704521 chr3:67704509-67704519 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704509-67704520
30	MAX	chr3:67704282-67704759	MCF-7	breast:	n/a	chr3:67704510-67704520 chr3:67704511-67704520 chr3:67704508-67704521 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704512-67704528 chr3:67704509-67704520 chr3:67704508-67704521 chr3:67704509-67704519 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704509-67704520
31	CHD2	chr3:67703967-67705580	GM12878	blood:	n/a	n/a
32	POLR2A	chr3:67704171-67705442	K562	blood:	n/a	n/a
33	GTF2F1	chr3:67704229-67705566	Hela-S3	cervix:	n/a	n/a
34	WRNIP1	chr3:67704079-67704710	GM12878	blood:	n/a	n/a
35	RUNX3	chr3:67703701-67704295	GM12878	blood:	n/a	n/a
36	POLR2A	chr3:67703530-67705582	MCF10A-Er-Src	breast:	n/a	n/a
37	MAZ	chr3:67704255-67705296	HepG2	liver:	n/a	chr3:67704510-67704520 chr3:67704511-67704520 chr3:67704508-67704521 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704512-67704528 chr3:67704509-67704520 chr3:67704508-67704521 chr3:67704509-67704519 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704509-67704520
38	POLR2A	chr3:67704274-67705416	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAZ	chr3:67704122-67705664	IMR90	lung:	n/a	chr3:67704510-67704520 chr3:67704511-67704520 chr3:67704508-67704521 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704512-67704528 chr3:67704509-67704520 chr3:67704508-67704521 chr3:67704509-67704519 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704509-67704520
40	TBP	chr3:67704263-67705384	K562	blood:	n/a	n/a
41	E2F6	chr3:67704197-67705591	H1-hESC	embryonic stem cell:	n/a	chr3:67704726-67704736 chr3:67704733-67704742 chr3:67705043-67705052 chr3:67704882-67704892 chr3:67704783-67704793 chr3:67704894-67704904
42	POLR2A	chr3:67704105-67705585	GM19193	blood:	n/a	n/a
43	POLR2A	chr3:67703877-67705560	MCF10A-Er-Src	breast:	n/a	n/a
44	MXI1	chr3:67704005-67705693	SK-N-SH	brain:	n/a	n/a
45	MTA3	chr3:67703325-67704527	GM12878	blood:	n/a	n/a
46	FOS	chr3:67704271-67705141	HUVEC	blood vessel:	n/a	chr3:67704657-67704668
47	MXI1	chr3:67703457-67705425	GM12878	blood:	n/a	n/a
48	ELF1	chr3:67704277-67704615	K562	blood:	n/a	n/a
49	POLR2A	chr3:67704280-67705396	HEK293	kidney:	n/a	n/a
50	MYC	chr3:67704194-67705502	NB4	blood:	n/a	chr3:67704510-67704520 chr3:67704511-67704520 chr3:67704508-67704521 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704512-67704528 chr3:67704509-67704520 chr3:67704508-67704521 chr3:67704509-67704519 chr3:67704510-67704519 chr3:67704508-67704521 chr3:67704509-67704520

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:67704244-67704294	HCPEpiC	choroid plexus:	n/a
2	chr3:67704244-67704294	HRE	kidney:	n/a
3	chr3:67704244-67704294	K562	blood:	n/a
4	chr3:67704244-67704294	SK-N-SH_RA	brain:	n/a
5	chr3:67704244-67704294	A549	lung:	n/a
6	chr3:67704244-67704294	HEK293	kidney:	embryo
7	chr3:67704244-67704294	T-47D	breast:	n/a
8	chr3:67704244-67704294	HL-60	blood:	n/a
9	chr3:67704244-67704294	GM06990	blood:	n/a
10	chr3:67704244-67704294	NT2-D1	testis:	n/a
11	chr3:67704244-67704294	Hepatocyte	liver:	n/a
12	chr3:67704244-67704294	AG04449	skin:	fetal
13	chr3:67704244-67704294	SKMC	muscle:	n/a
14	chr3:67704244-67704294	NB4	blood:	n/a
15	chr3:67704244-67704294	HCT-116	colon:	n/a
16	chr3:67704244-67704294	NHDF-neo	bronchial:	n/a
17	chr3:67704244-67704294	ECC-1	luminal epithelium:	n/a
18	chr3:67704244-67704294	GM19239	blood:	n/a
19	chr3:67704244-67704294	U87	brain:	n/a
20	chr3:67704244-67704294	H1-hESC	embryonic stem cell:	embryo
21	chr3:67704244-67704294	HPAEpiC	pulmonary alveolar:	n/a
22	chr3:67704244-67704294	HRCEpiC	kidney:	n/a
23	chr3:67704244-67704294	GM12891	blood:	n/a
24	chr3:67704244-67704294	PrEC	prostate:	n/a
25	chr3:67704244-67704294	BJ	skin:	n/a
26	chr3:67704244-67704294	AG04450	lung:	fetal
27	chr3:67704244-67704294	HMEC	breast:	n/a
28	chr3:67704244-67704294	SK-N-SH	brain:	n/a
29	chr3:67704244-67704294	HepG2	liver:	n/a
30	chr3:67704244-67704294	IMR90	lung:	fetal
31	chr3:67704244-67704294	Hela-S3	cervix:	n/a
32	chr3:67704244-67704294	HNPCEpiC	eye:	n/a
33	chr3:67704244-67704294	RPTEC	kidney:	n/a
34	chr3:67704244-67704294	HCF	heart:	n/a
35	chr3:67704244-67704294	HEEpiC	esophagus:	n/a
36	chr3:67704244-67704294	HCM	heart:	n/a
37	chr3:67704244-67704294	AoSMC	blood vessel:	n/a
38	chr3:67704244-67704294	Jurkat	blood:	n/a
39	chr3:67704244-67704294	AG10803	skin:	n/a
40	chr3:67704244-67704294	HRPEpiC	eye:	n/a
41	chr3:67704244-67704294	HAEpiC	amniotic membrane:	n/a
42	chr3:67704244-67704294	NHBE	bronchial:	n/a
43	chr3:67704244-67704294	GM12878	blood:	n/a
44	chr3:67704244-67704294	PANC-1	pancreas:	n/a
45	chr3:67704244-67704294	HUVEC	blood vessel:	n/a
46	chr3:67704244-67704294	ProgFib	skin:	n/a
47	chr3:67704244-67704294	ovcar-3	ovarian:	n/a
48	chr3:67704244-67704294	PFSK-1	brain:	n/a
49	chr3:67704244-67704294	AG09309	skin:	n/a
50	chr3:67704244-67704294	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:67644182..67646267-chr3:67702951..67705002,2	MCF-7	breast:
2	chr3:67701996..67704573-chr3:67817178..67820032,3	MCF-7	breast:
3	chr3:67703523..67705706-chr3:68980414..68982098,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241316	TF binding region
ENSG00000241316	CpG island
ENSG00000163377	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12639122	0.83[EUR][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	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3359258	chr3:67589615-67828274	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv876922	chr3:67635506-67755257	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv428739	chr3:67656829-67730379	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67699000-67704400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:67702200-67704400	Weak transcription	Spleen	Spleen
3	chr3:67702400-67704600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr3:67703000-67704600	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr3:67703200-67704800	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr3:67703400-67704400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:67703400-67704400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:67703400-67704400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr3:67703400-67704400	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr3:67703400-67704400	Flanking Active TSS	Osteobl	bone
11	chr3:67703400-67704600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr3:67703400-67704600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr3:67703400-67704600	Flanking Active TSS	Dnd41	blood
14	chr3:67703400-67704600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr3:67703400-67705800	Active TSS	NHLF	lung
16	chr3:67703600-67704400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr3:67703600-67704400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr3:67703600-67704600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:67703600-67704600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr3:67703600-67704800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr3:67703600-67705200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:67703600-67705200	Active TSS	GM12878-XiMat	blood
23	chr3:67703600-67705800	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr3:67703600-67706000	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr3:67703600-67706000	Active TSS	A549	lung
26	chr3:67703600-67706400	Active TSS	Colonic Mucosa	Colon
27	chr3:67703600-67706400	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr3:67703800-67704400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:67703800-67704400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:67703800-67704400	Flanking Active TSS	NHEK	skin
31	chr3:67703800-67705400	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr3:67703800-67705400	Active TSS	K562	blood
33	chr3:67703800-67706000	Active TSS	Fetal Intestine Small	intestine
34	chr3:67704000-67704400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
35	chr3:67704000-67704400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:67704000-67704400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr3:67704000-67704400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr3:67704000-67704400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:67704000-67704400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr3:67704000-67704400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:67704000-67704400	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr3:67704000-67704400	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr3:67704000-67704400	Flanking Active TSS	Fetal Lung	lung
44	chr3:67704000-67704400	Flanking Active TSS	Fetal Stomach	stomach
45	chr3:67704000-67704400	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr3:67704000-67704400	Flanking Active TSS	Hela-S3	cervix
47	chr3:67704000-67704400	Flanking Active TSS	HepG2	liver
48	chr3:67704000-67704400	Flanking Active TSS	HUVEC	blood vessel
49	chr3:67704000-67704600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:67704000-67704600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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