Variant report

Variant	rs2198191
Chromosome Location	chr4:151722248-151722249
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151719670..151722317-chr4:151725468..151728249,2	K562	blood:
2	chr4:151700866..151703696-chr4:151720432..151722328,2	K562	blood:
3	chr4:151709351..151711095-chr4:151719331..151722330,2	K562	blood:
4	chr14:46139668..46140618-chr4:151721697..151722558,2	MCF-7	breast:

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10003857	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10012460	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10857250	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1148631	0.82[EUR][1000 genomes]
rs1148633	0.82[EUR][1000 genomes]
rs1148634	0.82[EUR][1000 genomes]
rs1148636	0.82[EUR][1000 genomes]
rs1148641	0.82[EUR][1000 genomes]
rs1148644	0.82[EUR][1000 genomes]
rs1148646	0.82[EUR][1000 genomes]
rs1148650	0.81[EUR][1000 genomes]
rs1148651	0.84[EUR][1000 genomes]
rs1148655	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11737590	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1201197	0.82[EUR][1000 genomes]
rs1201199	0.82[EUR][1000 genomes]
rs1201200	0.82[EUR][1000 genomes]
rs1201204	0.88[ASN][1000 genomes]
rs1201208	0.82[EUR][1000 genomes]
rs1201209	0.82[EUR][1000 genomes]
rs1201210	0.82[EUR][1000 genomes]
rs1201216	0.84[EUR][1000 genomes]
rs1212119	0.80[EUR][1000 genomes]
rs12499833	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12645871	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12648430	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1273331	0.82[EUR][1000 genomes]
rs1273332	0.82[EUR][1000 genomes]
rs1298678	0.82[EUR][1000 genomes]
rs13126388	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1451634	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1583188	0.82[EUR][1000 genomes]
rs1583189	0.82[EUR][1000 genomes]
rs17027155	0.90[EUR][1000 genomes]
rs17027197	0.82[EUR][1000 genomes]
rs1782360	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1782365	0.82[EUR][1000 genomes]
rs184150	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs186080	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1947314	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2154349	0.82[EUR][1000 genomes]
rs2198192	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2218899	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs294530	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs294531	0.82[ASN][1000 genomes]
rs294532	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs294533	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs294535	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4416458	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4696220	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4696222	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4696630	0.93[ASN][1000 genomes]
rs4696632	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4696634	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57003564	0.90[EUR][1000 genomes]
rs62344565	0.81[AFR][1000 genomes]
rs62344567	0.83[AFR][1000 genomes]
rs62344568	0.82[AFR][1000 genomes]
rs62344602	0.82[EUR][1000 genomes]
rs6535749	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6535750	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6811016	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6817726	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6820819	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6831200	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6836017	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6838286	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6841158	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6851019	0.98[ASN][1000 genomes]
rs6852035	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6854740	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6855472	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs716474	0.86[AFR][1000 genomes]
rs7655761	0.93[ASN][1000 genomes]
rs7656796	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7663641	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7671635	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7677374	0.82[EUR][1000 genomes]
rs7682370	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7698142	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs891689	0.82[EUR][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	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1032070	chr4:151514664-151775259	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv1018404	chr4:151664438-152067409	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv1017850	chr4:151664438-152071876	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	esv2763837	chr4:151664438-152071888	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv870257	chr4:151665349-152072867	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv1015387	chr4:151673751-152071876	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
14	nsv526976	chr4:151675819-152055073	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
15	nsv1025077	chr4:151682266-152035733	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
16	nsv537303	chr4:151682266-152035733	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
17	nsv949066	chr4:151693149-152069566	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
18	nsv949002	chr4:151693149-152095109	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
19	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
20	nsv1031720	chr4:151708502-152071876	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
21	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
22	nsv1031516	chr4:151718614-152065644	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
23	nsv537304	chr4:151718614-152065644	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
24	nsv1022884	chr4:151718814-152065505	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
25	nsv537305	chr4:151718814-152065505	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151645600-151749000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:151653000-151749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:151668400-151725600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:151674200-151722600	Weak transcription	Fetal Thymus	thymus
5	chr4:151677200-151746000	Weak transcription	Ovary	ovary
6	chr4:151686600-151737400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:151690600-151725600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:151691000-151745600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:151691200-151749200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:151691200-151749200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:151691400-151731800	Weak transcription	Fetal Stomach	stomach
12	chr4:151692800-151748600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:151694200-151725800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr4:151694600-151726200	Weak transcription	Fetal Intestine Large	intestine
15	chr4:151694600-151729800	Weak transcription	GM12878-XiMat	blood
16	chr4:151694600-151732200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:151694600-151737200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:151704000-151747400	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:151704600-151737600	Weak transcription	Adipose Nuclei	Adipose
20	chr4:151706400-151745800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:151711600-151747400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:151711600-151749200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:151711800-151722800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr4:151712200-151742800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr4:151712400-151732200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:151712800-151737200	Weak transcription	Liver	Liver
27	chr4:151712800-151742800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:151713000-151761200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr4:151714400-151747200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:151714600-151723000	Weak transcription	Fetal Intestine Small	intestine
31	chr4:151714800-151735600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:151715800-151737200	Weak transcription	K562	blood
33	chr4:151716600-151726400	Weak transcription	Fetal Kidney	kidney
34	chr4:151717400-151726200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr4:151717600-151726600	Weak transcription	HepG2	liver
36	chr4:151719000-151722400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:151719000-151724000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:151719000-151737200	Weak transcription	HMEC	breast
39	chr4:151719600-151726200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:151719600-151733800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:151720200-151724000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:151720800-151725400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:151720800-151726600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr4:151721000-151722400	Strong transcription	Primary T cells from cord blood	blood
45	chr4:151721000-151723200	Strong transcription	Primary B cells from cord blood	blood
46	chr4:151721200-151726800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:151721400-151722400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr4:151722000-151728400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr4:151722200-151743600	Weak transcription	Left Ventricle	heart

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