Variant report

Variant	rs67581262
Chromosome Location	chr3:196045555-196045556
allele	C/G
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	MAX	chr3:196044328-196045562	ECC-1	luminal epithelium:	n/a	chr3:196045123-196045133 chr3:196045105-196045114
2	POLR2A	chr3:196044267-196045595	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr3:196044329-196045655	PFSK-1	brain:	n/a	n/a
4	MAX	chr3:196044262-196045579	A549	lung:	n/a	chr3:196045123-196045133 chr3:196045105-196045114
5	POLR2A	chr3:196044343-196045608	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr3:196044385-196045579	MCF-7	breast:	n/a	n/a
7	POLR2A	chr3:196044777-196045569	GM12891	blood:	n/a	n/a
8	POLR2A	chr3:196044271-196045657	U87	brain:	n/a	n/a
9	TFAP2C	chr3:196044487-196045596	Hela-S3	cervix:	n/a	chr3:196045234-196045249 chr3:196045284-196045299 chr3:196044713-196044728
10	JUN	chr3:196044352-196045682	K562	blood:	n/a	n/a
11	SIN3AK20	chr3:196044287-196045705	MCF-7	breast:	n/a	n/a
12	POLR2A	chr3:196044163-196045595	PANC-1	pancreas:	n/a	n/a
13	HDAC2	chr3:196044335-196045571	MCF-7	breast:	n/a	chr3:196044836-196044855
14	POLR2A	chr3:196043571-196047499	HepG2	liver:	n/a	n/a
15	POLR2A	chr3:196043577-196045590	GM12878	blood:	n/a	n/a
16	TAF1	chr3:196044555-196045670	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr3:196044377-196045594	MCF-7	breast:	n/a	chr3:196045123-196045133 chr3:196045105-196045114
18	ZNF384	chr3:196045535-196045689	GM12878	blood:	n/a	n/a
19	POLR2A	chr3:196044405-196045591	MCF-7	breast:	n/a	n/a
20	POLR2A	chr3:196043607-196045582	GM12892	blood:	n/a	n/a
21	TFAP2A	chr3:196044511-196045584	Hela-S3	cervix:	n/a	chr3:196045236-196045251
22	MAX	chr3:196044327-196045555	HepG2	liver:	n/a	chr3:196045123-196045133 chr3:196045105-196045114
23	POLR2A	chr3:196044283-196045612	HUVEC	blood vessel:	n/a	n/a
24	HCFC1	chr3:196044403-196045681	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr3:196044281-196047616	K562	blood:	n/a	n/a
26	CREB1	chr3:196044325-196045581	K562	blood:	n/a	n/a
27	POLR2A	chr3:196044382-196045657	U87	brain:	n/a	n/a
28	REST	chr3:196044302-196045693	H1-neurons	neurons:	n/a	chr3:196045148-196045161 chr3:196044835-196044855 chr3:196044729-196044742 chr3:196045148-196045161 chr3:196044501-196044511 chr3:196045151-196045164
29	POLR2A	chr3:196043935-196045655	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr3:196044406-196045556	K562	blood:	n/a	chr3:196045123-196045133 chr3:196045105-196045114
31	POLR2A	chr3:196043650-196045871	K562	blood:	n/a	n/a
32	ZNF384	chr3:196044455-196045732	K562	blood:	n/a	n/a
33	POLR2A	chr3:196043445-196045600	GM12892	blood:	n/a	n/a
34	POLR2A	chr3:196043570-196045577	GM12878	blood:	n/a	n/a
35	POLR2A	chr3:196044388-196045617	K562	blood:	n/a	n/a
36	MXI1	chr3:196044333-196045688	SK-N-SH	brain:	n/a	chr3:196045099-196045114 chr3:196045101-196045116
37	E2F6	chr3:196044403-196045557	A549	lung:	n/a	chr3:196045195-196045206 chr3:196044911-196044926 chr3:196045176-196045185
38	HA-E2F1	chr3:196044356-196045561	MCF-7	breast:	n/a	chr3:196045194-196045205 chr3:196045176-196045185
39	GATA1	chr3:196044777-196045610	PBDE	blood:	n/a	n/a
40	PML	chr3:196044286-196045622	GM12878	blood:	n/a	n/a
41	POLR2A	chr3:196044333-196046786	K562	blood:	n/a	n/a
42	POLR2A	chr3:196044466-196045596	GM12878	blood:	n/a	n/a
43	POLR2A	chr3:196044205-196045622	HUVEC	blood vessel:	n/a	n/a
44	ELF1	chr3:196044337-196045610	GM12878	blood:	n/a	chr3:196044883-196044895 chr3:196044718-196044730
45	TCF12	chr3:196044432-196045558	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:196044858..196045747-chrX:48660382..48661281,2	Hela-S3	cervix:
2	chr3:196044828..196047817-chr3:196050115..196053393,5	K562	blood:
3	chr3:196043015..196047197-chr3:196061951..196068288,11	K562	blood:
4	chr3:196043730..196046568-chr3:196064807..196067685,4	MCF-7	breast:
5	chr3:196012377..196016502-chr3:196041586..196047553,11	K562	blood:
6	chr3:196022549..196024808-chr3:196044443..196046676,2	K562	blood:
7	chr3:196012669..196015162-chr3:196043820..196046764,2	K562	blood:
8	chr3:196043702..196046805-chr3:196047566..196053193,12	MCF-7	breast:
9	chr3:196040934..196046683-chr3:196067954..196076269,13	MCF-7	breast:
10	chr3:196043015..196046706-chr3:196061951..196066451,7	K562	blood:
11	chr3:196013508..196016403-chr3:196043043..196046288,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272741	TF binding region
TCTEX1D2	TF binding region
ENSG00000094631	Chromatin interaction
ENSG00000273331	Chromatin interaction
ENSG00000145107	Chromatin interaction
ENSG00000161217	Chromatin interaction
ENSG00000212146	Chromatin interaction
ENSG00000213123	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12487600	0.89[ASN][1000 genomes]
rs2280526	0.83[ASN][1000 genomes]
rs4916480	0.80[ASN][1000 genomes]
rs56393817	0.83[ASN][1000 genomes]
rs60670584	0.80[ASN][1000 genomes]
rs67127834	0.80[ASN][1000 genomes]
rs6779233	0.80[ASN][1000 genomes]
rs67844518	0.80[ASN][1000 genomes]
rs7631913	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	esv2757913	chr3:195379484-196071593	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv532213	chr3:195643944-196063636	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS 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	98 gene(s)	inside rSNPs	diseases
5	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
6	nsv461131	chr3:195858887-196072442	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	nsv593071	chr3:195858887-196072442	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
8	nsv1009178	chr3:195864466-196081670	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
9	nsv536892	chr3:195864466-196081670	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
10	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
11	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
12	nsv1014563	chr3:195934010-196085951	Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
13	nsv878180	chr3:195946535-196066569	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
14	nsv878181	chr3:195946535-196072442	Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
15	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
16	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
17	nsv878182	chr3:195974181-196228360	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
18	nsv1003764	chr3:196028141-196190687	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
19	nsv536895	chr3:196028141-196190687	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
20	nsv4183	chr3:196034067-196079109	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196043200-196045800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:196043600-196045600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:196043600-196045600	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr3:196043600-196045600	Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr3:196043600-196045800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:196043600-196046600	Active TSS	A549	lung
7	chr3:196043800-196045600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr3:196043800-196045600	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr3:196043800-196045600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:196043800-196045600	Active TSS	Brain Germinal Matrix	brain
11	chr3:196043800-196045800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:196043800-196045800	Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr3:196043800-196045800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:196043800-196045800	Active TSS	Fetal Brain Female	brain
15	chr3:196043800-196045800	Active TSS	Osteobl	bone
16	chr3:196043800-196046000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:196043800-196046000	Active TSS	HSMM	muscle
18	chr3:196043800-196047000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:196044000-196045600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:196044000-196045600	Active TSS	Fetal Kidney	kidney
21	chr3:196044000-196045600	Active TSS	NHDF-Ad	bronchial
22	chr3:196044000-196045600	Active TSS	NHLF	lung
23	chr3:196044000-196045800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:196044000-196045800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:196044000-196045800	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr3:196044000-196045800	Active TSS	GM12878-XiMat	blood
27	chr3:196044000-196045800	Active TSS	K562	blood
28	chr3:196044000-196046000	Active TSS	Muscle Satellite Cultured Cells	--
29	chr3:196044000-196046000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:196044000-196046200	Active TSS	Hela-S3	cervix
31	chr3:196044200-196045600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:196044200-196045600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:196044200-196045600	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr3:196044200-196045600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:196044200-196045600	Active TSS	Brain Anterior Caudate	brain
36	chr3:196044200-196045600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:196044200-196045600	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr3:196044200-196045600	Active TSS	Fetal Lung	lung
39	chr3:196044200-196045600	Active TSS	Placenta	Placenta
40	chr3:196044200-196045600	Active TSS	Fetal Thymus	thymus
41	chr3:196044200-196045600	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr3:196044200-196045600	Active TSS	Thymus	Thymus
43	chr3:196044200-196045600	Active TSS	HSMMtube	muscle
44	chr3:196044200-196045600	Active TSS	NHEK	skin
45	chr3:196044200-196045800	Active TSS	H1 Cell Line	embryonic stem cell
46	chr3:196044200-196045800	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr3:196044200-196045800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:196044200-196045800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr3:196044200-196045800	Active TSS	Duodenum Mucosa	Duodenum
50	chr3:196044200-196045800	Active TSS	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links