Variant report

Variant	rs7949443
Chromosome Location	chr11:107719003-107719004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107717688..107720633-chr11:107727875..107730541,3	MCF-7	breast:
2	chr11:107716345..107719089-chr11:107728424..107730844,2	K562	blood:

Variant related genes	Relation type
ENSG00000110660	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10431032	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10789638	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890767	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10890768	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10890769	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10890770	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212405	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11212408	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212410	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11212411	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11212416	0.84[EUR][1000 genomes]
rs11212419	0.83[EUR][1000 genomes]
rs11603925	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11603959	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12221840	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278174	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12417231	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12418609	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3105397	0.82[ASN][1000 genomes]
rs3741065	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4466794	0.84[EUR][1000 genomes]
rs4587695	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4753819	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753820	0.92[ASN][1000 genomes]
rs4753821	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4754264	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4754265	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4754267	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4754268	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4754270	0.83[EUR][1000 genomes]
rs483463	0.82[ASN][1000 genomes]
rs483874	0.82[ASN][1000 genomes]
rs488081	0.82[ASN][1000 genomes]
rs522861	0.81[ASN][1000 genomes]
rs523750	0.82[ASN][1000 genomes]
rs529987	0.82[ASN][1000 genomes]
rs55669117	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56139321	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56218864	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs565438	0.82[ASN][1000 genomes]
rs566238	0.82[ASN][1000 genomes]
rs573074	0.82[ASN][1000 genomes]
rs578300	0.82[ASN][1000 genomes]
rs579485	0.80[ASN][1000 genomes]
rs58034440	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs61906861	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7102437	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7104117	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7109214	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7121733	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73007259	0.85[EUR][1000 genomes]
rs7941501	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7946548	0.85[EUR][1000 genomes]
rs924859	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs924860	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS 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	45 gene(s)	inside rSNPs	diseases
2	nsv1039425	chr11:107468681-107895836	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv427899	chr11:107471544-107805894	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1049524	chr11:107540937-107954011	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1038581	chr11:107564274-107838386	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv898378	chr11:107580985-107847983	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv521771	chr11:107590335-107904646	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv1048938	chr11:107604473-107929950	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv1052829	chr11:107686808-107725297	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1045388	chr11:107686808-107733498	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv3417743	chr11:107699670-107725103	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv37306	chr11:107719000-107719003	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107673400-107727800	Weak transcription	Primary B cells from cord blood	blood
2	chr11:107711600-107719400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:107711600-107720600	Weak transcription	Pancreas	Pancrea
4	chr11:107711800-107719200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:107711800-107722400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:107712000-107719200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:107712000-107719200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:107712000-107720600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:107712200-107720800	Weak transcription	Esophagus	oesophagus
10	chr11:107712200-107723000	Weak transcription	HSMM	muscle
11	chr11:107712200-107728400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:107712400-107720800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:107712400-107727200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:107712400-107727800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr11:107712400-107728000	Weak transcription	NHDF-Ad	bronchial
16	chr11:107712600-107723600	Weak transcription	K562	blood
17	chr11:107712600-107727000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:107712600-107727000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:107712600-107728200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:107712600-107728600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:107712800-107720400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:107712800-107720400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:107712800-107727000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr11:107713000-107728400	Weak transcription	Fetal Intestine Small	intestine
25	chr11:107713400-107727200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:107713600-107725000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:107715000-107719800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:107715000-107725400	Weak transcription	HUVEC	blood vessel
29	chr11:107715000-107727800	Weak transcription	HMEC	breast
30	chr11:107715200-107719200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:107715200-107719200	Weak transcription	Hela-S3	cervix
32	chr11:107716200-107719200	Weak transcription	Placenta	Placenta
33	chr11:107716200-107719400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:107716600-107727600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:107717800-107719600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:107718200-107719200	Enhancers	NHEK	skin
37	chr11:107718400-107721200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr11:107718600-107719400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:107718600-107719400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:107718600-107719600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:107718800-107719400	Weak transcription	Small Intestine	intestine
42	chr11:107718800-107719600	Enhancers	GM12878-XiMat	blood
43	chr11:107719000-107719200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr11:107719000-107719600	Enhancers	A549	lung
45	chr11:107719000-107719800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr11:107719000-107719800	Enhancers	Primary T helper cells PMA-I stimulated	--

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