Variant report

Variant	rs4916501
Chromosome Location	chr3:195933805-195933806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr3:195933761-195934538	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr3:195933737-195934447	K562	blood:	n/a	chr3:195933872-195933887 chr3:195933876-195933886
3	MAX	chr3:195933676-195934144	H1-hESC	embryonic stem cell:	n/a	chr3:195933872-195933887 chr3:195933876-195933886
4	NR2F2	chr3:195933697-195934163	K562	blood:	n/a	n/a
5	E2F6	chr3:195933454-195934420	H1-hESC	embryonic stem cell:	n/a	chr3:195934211-195934222

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195793504..195812987-chr3:195901613..195938073,113	K562	blood:
2	chr3:195933623..195937361-chr3:196062207..196065610,4	K562	blood:
3	chr3:195921230..195923242-chr3:195932657..195935379,3	K562	blood:
4	chr3:195871532..195873508-chr3:195933763..195935660,2	K562	blood:
5	chr3:195805990..195808883-chr3:195933159..195936246,3	K562	blood:
6	chr3:195807633..195809874-chr3:195932027..195934415,2	MCF-7	breast:
7	chr3:195928850..195930702-chr3:195933758..195935376,2	K562	blood:
8	chr3:195932805..195936731-chr3:195940753..195943412,3	MCF-7	breast:
9	chr3:195932381..195937980-chr3:195939061..195944688,8	K562	blood:
10	chr3:195933308..195935063-chr3:196012646..196014729,2	K562	blood:
11	chr3:195785800..195787817-chr3:195933272..195935251,2	K562	blood:
12	chr3:195933778..195935330-chr3:195950925..195952641,2	MCF-7	breast:
13	chr3:195933131..195935157-chr3:196159454..196161102,2	K562	blood:
14	chr3:195807839..195810116-chr3:195932911..195935811,2	MCF-7	breast:

No data

Variant related genes	Relation type
SLC51A	TF binding region
ENSG00000163959	Chromatin interaction
ENSG00000145107	Chromatin interaction
ENSG00000252174	Chromatin interaction
ENSG00000072274	Chromatin interaction
ENSG00000161217	Chromatin interaction
ENSG00000222335	Chromatin interaction
ENSG00000273331	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12497404	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12718059	1.00[CEU][hapmap];0.85[JPT][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13079186	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4916502	1.00[CEU][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4916503	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916504	0.96[CEU][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4916506	1.00[CEU][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4916508	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4916509	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6784882	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	nsv878171	chr3:195677895-195959924	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv1008512	chr3:195709662-195974936	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv432543	chr3:195746690-196015690	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
8	nsv1009105	chr3:195769609-195984388	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv998042	chr3:195840858-195934070	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	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
11	nsv878174	chr3:195858887-195949541	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	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
17	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
18	nsv878175	chr3:195907653-195973244	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv1014159	chr3:195908999-195968512	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	esv32936	chr3:195916045-195940827	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	nsv878176	chr3:195926234-195959924	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
22	nsv878177	chr3:195929268-195949541	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv878178	chr3:195929268-195998451	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	nsv878179	chr3:195929268-196019680	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
25	esv3414871	chr3:195933780-195935853	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195921600-195934000	Weak transcription	Right Atrium	heart
2	chr3:195922000-195934200	Weak transcription	Right Ventricle	heart
3	chr3:195923800-195934200	Weak transcription	Thymus	Thymus
4	chr3:195929800-195934000	Weak transcription	Ovary	ovary
5	chr3:195930400-195934000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr3:195930600-195934000	Weak transcription	Esophagus	oesophagus
7	chr3:195930800-195934000	Weak transcription	Brain Anterior Caudate	brain
8	chr3:195931600-195934000	Weak transcription	Primary B cells from cord blood	blood
9	chr3:195932800-195934800	Weak transcription	HepG2	liver
10	chr3:195933000-195934000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr3:195933600-195934000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr3:195933600-195934000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:195933600-195934200	Enhancers	Pancreas	Pancrea
14	chr3:195933600-195934200	Flanking Active TSS	K562	blood
15	chr3:195933600-195934400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr3:195933600-195935200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr3:195933600-195935400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr3:195933800-195934000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:195933800-195934000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:195933800-195934000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:195933800-195934000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:195933800-195934000	Enhancers	Primary hematopoietic stem cells	blood
23	chr3:195933800-195934000	Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr3:195933800-195934000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr3:195933800-195934000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr3:195933800-195934000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr3:195933800-195934000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr3:195933800-195934000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr3:195933800-195934000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:195933800-195934000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr3:195933800-195934000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:195933800-195934000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:195933800-195934000	Enhancers	Liver	Liver
34	chr3:195933800-195934000	Enhancers	Placenta	Placenta
35	chr3:195933800-195934000	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr3:195933800-195934000	Enhancers	A549	lung
37	chr3:195933800-195934000	Enhancers	HMEC	breast
38	chr3:195933800-195934200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
39	chr3:195933800-195934200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:195933800-195934200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
41	chr3:195933800-195934200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr3:195933800-195934200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr3:195933800-195934200	Bivalent Enhancer	Brain Germinal Matrix	brain
44	chr3:195933800-195934200	Enhancers	Gastric	stomach
45	chr3:195933800-195934400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr3:195933800-195934400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
47	chr3:195933800-195934400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr3:195933800-195934400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr3:195933800-195934400	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr3:195933800-195934400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links