Variant report

Variant	rs57955602
Chromosome Location	chr11:67358733-67358734
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67355448..67359468-chr11:67373410..67375922,3	MCF-7	breast:
2	chr11:67351136..67354187-chr11:67356104..67360261,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000084207	Chromatin interaction
ENSG00000167792	Chromatin interaction
ENSG00000184224	Chromatin interaction

Extended variants
information (count: 134 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10896175	1.00[EUR][1000 genomes]
rs11227796	1.00[EUR][1000 genomes]
rs11227804	1.00[EUR][1000 genomes]
rs11821703	1.00[EUR][1000 genomes]
rs12288316	1.00[EUR][1000 genomes]
rs12293606	1.00[EUR][1000 genomes]
rs1382089	1.00[EUR][1000 genomes]
rs1618605	1.00[EUR][1000 genomes]
rs1620333	1.00[EUR][1000 genomes]
rs1624189	1.00[EUR][1000 genomes]
rs1625032	1.00[EUR][1000 genomes]
rs1625892	1.00[EUR][1000 genomes]
rs1630068	1.00[EUR][1000 genomes]
rs1632616	1.00[EUR][1000 genomes]
rs1638558	1.00[EUR][1000 genomes]
rs1638559	1.00[EUR][1000 genomes]
rs1638560	1.00[EUR][1000 genomes]
rs1638561	1.00[EUR][1000 genomes]
rs1638562	1.00[EUR][1000 genomes]
rs1638563	1.00[EUR][1000 genomes]
rs1638570	1.00[EUR][1000 genomes]
rs1638572	1.00[EUR][1000 genomes]
rs1638575	1.00[EUR][1000 genomes]
rs1638576	1.00[EUR][1000 genomes]
rs1638577	1.00[EUR][1000 genomes]
rs1638581	1.00[EUR][1000 genomes]
rs1638584	1.00[EUR][1000 genomes]
rs1638587	1.00[EUR][1000 genomes]
rs1790729	1.00[EUR][1000 genomes]
rs1790730	1.00[EUR][1000 genomes]
rs1790734	1.00[EUR][1000 genomes]
rs1790736	1.00[EUR][1000 genomes]
rs1790741	1.00[EUR][1000 genomes]
rs1790743	1.00[EUR][1000 genomes]
rs1790744	1.00[EUR][1000 genomes]
rs1790745	1.00[EUR][1000 genomes]
rs1790749	1.00[EUR][1000 genomes]
rs1790750	1.00[EUR][1000 genomes]
rs1790754	1.00[EUR][1000 genomes]
rs1790756	1.00[EUR][1000 genomes]
rs1790763	1.00[EUR][1000 genomes]
rs1790764	1.00[EUR][1000 genomes]
rs1790765	1.00[EUR][1000 genomes]
rs1824712	1.00[EUR][1000 genomes]
rs2054409	1.00[EUR][1000 genomes]
rs2447590	1.00[EUR][1000 genomes]
rs2447591	1.00[EUR][1000 genomes]
rs2447597	1.00[EUR][1000 genomes]
rs2511058	1.00[EUR][1000 genomes]
rs2511059	1.00[EUR][1000 genomes]
rs2514013	1.00[EUR][1000 genomes]
rs2514014	1.00[EUR][1000 genomes]
rs2514015	1.00[EUR][1000 genomes]
rs2514024	1.00[EUR][1000 genomes]
rs2514045	1.00[EUR][1000 genomes]
rs2514064	1.00[EUR][1000 genomes]
rs2514262	1.00[EUR][1000 genomes]
rs2514263	1.00[EUR][1000 genomes]
rs2885171	1.00[EUR][1000 genomes]
rs3016861	1.00[EUR][1000 genomes]
rs35363135	1.00[EUR][1000 genomes]
rs36052107	1.00[EUR][1000 genomes]
rs5019164	1.00[EUR][1000 genomes]
rs56050553	1.00[EUR][1000 genomes]
rs56102510	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56405884	1.00[EUR][1000 genomes]
rs57047868	1.00[EUR][1000 genomes]
rs57134963	1.00[EUR][1000 genomes]
rs57749415	1.00[EUR][1000 genomes]
rs57757103	1.00[EUR][1000 genomes]
rs58999825	1.00[EUR][1000 genomes]
rs59500232	1.00[EUR][1000 genomes]
rs596431	1.00[EUR][1000 genomes]
rs596944	1.00[EUR][1000 genomes]
rs601363	1.00[EUR][1000 genomes]
rs60136955	1.00[EUR][1000 genomes]
rs60251934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs602720	1.00[EUR][1000 genomes]
rs604540	1.00[EUR][1000 genomes]
rs60521870	1.00[EUR][1000 genomes]
rs611697	1.00[EUR][1000 genomes]
rs61282424	1.00[EUR][1000 genomes]
rs61429992	1.00[EUR][1000 genomes]
rs61610719	1.00[EUR][1000 genomes]
rs618633	1.00[EUR][1000 genomes]
rs641081	1.00[EUR][1000 genomes]
rs6591267	1.00[EUR][1000 genomes]
rs7104627	1.00[EUR][1000 genomes]
rs7121803	1.00[EUR][1000 genomes]
rs7124630	1.00[EUR][1000 genomes]
rs73490545	1.00[EUR][1000 genomes]
rs73490554	1.00[EUR][1000 genomes]
rs73506004	1.00[EUR][1000 genomes]
rs73506015	1.00[EUR][1000 genomes]
rs73506054	1.00[EUR][1000 genomes]
rs73506056	1.00[EUR][1000 genomes]
rs73506069	1.00[EUR][1000 genomes]
rs73506074	1.00[EUR][1000 genomes]
rs743679	1.00[EUR][1000 genomes]
rs7934566	1.00[EUR][1000 genomes]
rs7947114	1.00[EUR][1000 genomes]
rs8191436	1.00[EUR][1000 genomes]
rs8191446	1.00[EUR][1000 genomes]
rs8191449	1.00[EUR][1000 genomes]
rs949250	1.00[EUR][1000 genomes]
rs949251	1.00[EUR][1000 genomes]
rs949252	1.00[EUR][1000 genomes]
rs949253	1.00[EUR][1000 genomes]
rs949254	1.00[EUR][1000 genomes]
rs949255	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
4	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
5	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
6	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
7	nsv1041988	chr11:67319916-67749246	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
8	nsv897814	chr11:67339949-67460529	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv1050463	chr11:67343421-67717338	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
10	nsv1038189	chr11:67345320-67749246	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1047236	chr11:67345320-67764068	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
12	nsv555268	chr11:67346743-67752972	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription 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	81 gene(s)	inside rSNPs	diseases
13	nsv1036101	chr11:67346813-67828351	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
14	nsv541079	chr11:67346813-67828351	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
15	nsv897815	chr11:67347595-67408791	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv1053811	chr11:67349444-67749246	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
17	esv1817852	chr11:67349899-67626567	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
18	nsv468606	chr11:67352689-67816936	Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
19	nsv555269	chr11:67352689-67816936	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
20	nsv897816	chr11:67353579-67460529	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
21	nsv1041887	chr11:67357365-67464893	Flanking Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription 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	49 gene(s)	inside rSNPs	diseases
22	nsv541080	chr11:67357365-67464893	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers 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
23	nsv529452	chr11:67358204-67465721	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
24	nsv492253	chr11:67358204-67574402	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67352600-67359800	Weak transcription	Right Atrium	heart
2	chr11:67352600-67360200	Weak transcription	Brain Angular Gyrus	brain
3	chr11:67353200-67358800	Weak transcription	Fetal Brain Male	brain
4	chr11:67354200-67358800	Weak transcription	Thymus	Thymus
5	chr11:67354200-67359600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:67354600-67359000	Weak transcription	Brain Substantia Nigra	brain
7	chr11:67354600-67359000	Weak transcription	Left Ventricle	heart
8	chr11:67354600-67359200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr11:67354600-67359800	Weak transcription	Spleen	Spleen
10	chr11:67354600-67360400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:67354600-67360400	Weak transcription	Esophagus	oesophagus
12	chr11:67354600-67360600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:67354600-67360800	Weak transcription	Ovary	ovary
14	chr11:67354800-67360200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:67355000-67373200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:67355400-67360600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:67355800-67359200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:67355800-67359200	Weak transcription	HSMM	muscle
19	chr11:67355800-67359200	Weak transcription	Osteobl	bone
20	chr11:67355800-67359800	Weak transcription	NH-A	brain
21	chr11:67355800-67360200	Weak transcription	HUVEC	blood vessel
22	chr11:67355800-67360400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:67355800-67360400	Weak transcription	Fetal Intestine Large	intestine
24	chr11:67355800-67360800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:67355800-67363600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:67355800-67368600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr11:67356000-67358800	Enhancers	Primary B cells from cord blood	blood
28	chr11:67356000-67358800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:67356000-67359000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:67356000-67359000	Weak transcription	HSMMtube	muscle
31	chr11:67356000-67359200	Weak transcription	NHLF	lung
32	chr11:67356000-67360200	Weak transcription	HMEC	breast
33	chr11:67356000-67360200	Weak transcription	NHEK	skin
34	chr11:67356000-67360600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:67356200-67359000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:67356200-67359000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:67356200-67359600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:67356200-67360200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:67356200-67360400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:67356200-67373800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr11:67356600-67360000	Weak transcription	Fetal Muscle Leg	muscle
42	chr11:67356600-67360400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:67356600-67360600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr11:67356800-67358800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:67356800-67358800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:67356800-67359600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr11:67356800-67359800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:67356800-67360200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:67356800-67360400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:67356800-67360600	Weak transcription	Fetal Intestine Small	intestine

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