Variant report

Variant	rs3775110
Chromosome Location	chr4:1162022-1162023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1161114..1165211-chr4:1166165..1170804,4	MCF-7	breast:
2	chr4:1159229..1162099-chr4:1242725..1245069,2	K562	blood:
3	chr4:1159882..1162594-chr4:1225934..1228487,2	MCF-7	breast:
4	chr4:1158166..1163360-chr4:1238498..1245354,13	MCF-7	breast:
5	chr4:1160924..1165328-chr4:1340425..1343058,5	MCF-7	breast:
6	chr4:1161675..1163555-chr4:1169840..1172430,2	MCF-7	breast:
7	chr4:1005928..1008320-chr4:1161466..1163793,2	MCF-7	breast:
8	chr4:1161599..1163141-chr4:1169473..1171016,2	K562	blood:
9	chr4:1157316..1159655-chr4:1161793..1164366,2	K562	blood:
10	chr4:1146501..1148469-chr4:1159921..1162668,2	MCF-7	breast:
11	chr4:1160471..1164177-chr4:1164804..1166602,3	K562	blood:
12	chr4:1159747..1163015-chr4:1240558..1244483,3	K562	blood:
13	chr4:1159320..1162756-chr4:1282339..1286135,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215367	Chromatin interaction
ENSG00000159674	Chromatin interaction
ENSG00000196810	Chromatin interaction
ENSG00000127418	Chromatin interaction
ENSG00000090316	Chromatin interaction
ENSG00000163945	Chromatin interaction
ENSG00000159692	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10003030	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10016588	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11723211	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11726675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11726836	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11731643	0.95[ASN][1000 genomes]
rs11735226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17164362	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17164373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164382	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2001862	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28540372	0.98[ASN][1000 genomes]
rs3775111	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6831018	0.92[ASN][1000 genomes]
rs6853712	0.92[ASN][1000 genomes]
rs7659054	0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7661069	0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7669287	0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[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	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv536980	chr4:827866-1167377	Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv1009619	chr4:901897-1215657	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1003876	chr4:927509-1191316	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1000381	chr4:927509-1198766	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	esv3339080	chr4:970630-1546223	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv1005990	chr4:1015652-1167619	Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv1012892	chr4:1086871-1176630	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv829835	chr4:1097586-1304239	Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv878328	chr4:1141573-1990425	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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	121 gene(s)	inside rSNPs	diseases
12	nsv878329	chr4:1147407-1254930	Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
13	nsv878330	chr4:1147407-1523930	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS 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 miRNA target site	71 gene(s)	inside rSNPs	diseases
14	nsv519106	chr4:1158991-1174861	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv593276	chr4:1159680-1227469	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
16	nsv461151	chr4:1159680-1236840	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
17	nsv593277	chr4:1159680-1236840	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
18	nsv878331	chr4:1159680-1254930	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
19	nsv461152	chr4:1159680-1415698	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
20	nsv593278	chr4:1159680-1415698	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1160400-1163400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:1161000-1162200	Active TSS	Brain Anterior Caudate	brain
3	chr4:1161200-1162200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
4	chr4:1161400-1162400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:1161600-1162400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
6	chr4:1161600-1162400	Flanking Active TSS	Dnd41	blood
7	chr4:1161600-1162600	Enhancers	Spleen	Spleen
8	chr4:1161800-1162200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:1161800-1162200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:1161800-1162200	Enhancers	Colon Smooth Muscle	Colon
11	chr4:1161800-1162200	Bivalent Enhancer	Fetal Intestine Large	intestine
12	chr4:1161800-1162200	Bivalent Enhancer	Fetal Lung	lung
13	chr4:1161800-1162400	Active TSS	Colonic Mucosa	Colon
14	chr4:1161800-1162400	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr4:1161800-1162400	Flanking Active TSS	GM12878-XiMat	blood
16	chr4:1161800-1162400	Weak transcription	HSMM	muscle
17	chr4:1161800-1162600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:1161800-1162600	Enhancers	Esophagus	oesophagus
19	chr4:1161800-1162600	Bivalent Enhancer	Fetal Thymus	thymus
20	chr4:1161800-1162600	Weak transcription	NHDF-Ad	bronchial
21	chr4:1161800-1162600	Bivalent Enhancer	NHEK	skin
22	chr4:1161800-1162800	Weak transcription	Lung	lung
23	chr4:1161800-1163000	Weak transcription	Ovary	ovary
24	chr4:1161800-1163000	Weak transcription	Pancreas	Pancrea
25	chr4:1161800-1163200	Weak transcription	Gastric	stomach
26	chr4:1161800-1163400	Weak transcription	HepG2	liver
27	chr4:1161800-1163800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:1161800-1163800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr4:1161800-1163800	Enhancers	Adipose Nuclei	Adipose
30	chr4:1161800-1164000	Bivalent Enhancer	Placenta	Placenta
31	chr4:1161800-1164000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr4:1161800-1164000	Genic enhancers	NHLF	lung
33	chr4:1161800-1164200	Bivalent Enhancer	Fetal Stomach	stomach
34	chr4:1161800-1164600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:1161800-1165000	Weak transcription	Right Atrium	heart
36	chr4:1161800-1165200	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:1162000-1162200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:1162000-1162200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
39	chr4:1162000-1162200	Enhancers	Primary hematopoietic stem cells	blood
40	chr4:1162000-1162200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr4:1162000-1162200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:1162000-1162200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr4:1162000-1162200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:1162000-1162200	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr4:1162000-1162200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:1162000-1162200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:1162000-1162200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:1162000-1162200	Enhancers	Liver	Liver
49	chr4:1162000-1162200	Enhancers	Brain Hippocampus Middle	brain
50	chr4:1162000-1162200	Enhancers	Duodenum Mucosa	Duodenum

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