Variant report

Variant	rs7950075
Chromosome Location	chr11:9763040-9763041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9756797..9759771-chr11:9761675..9763540,2	MCF-7	breast:
2	chr11:9759666..9763532-chr11:9766394..9768623,4	K562	blood:
3	chr11:9635234..9636871-chr11:9761636..9763417,2	MCF-7	breast:
4	chr11:9759666..9763371-chr11:9766657..9768623,3	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1056593	0.97[ASN][1000 genomes]
rs1056674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11821544	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11821692	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11828354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496475	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1532422	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16906967	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1845884	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28607967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2878800	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3197265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34696762	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3817010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55959510	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56029305	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56096143	0.82[ASN][1000 genomes]
rs56294870	0.81[ASN][1000 genomes]
rs56340721	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57070018	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57590863	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57650149	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57843161	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57864531	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58073079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58217715	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58765157	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59070186	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60195226	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60544361	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60548107	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60601382	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60929104	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61059316	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61284089	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61469272	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6483649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6483650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6483651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6483654	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6483655	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6483657	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6483658	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7113055	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7114514	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7928407	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7935267	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939896	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7940708	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7940826	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7946920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949343	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs868860	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868861	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1045550	chr11:9718324-9790088	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases
5	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9742200-9779400	Weak transcription	Fetal Brain Male	brain
2	chr11:9745000-9775600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:9749000-9764400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:9749000-9764400	Strong transcription	Muscle Satellite Cultured Cells	--
5	chr11:9749400-9764400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:9749600-9764400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:9751000-9764400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:9753800-9764400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:9754000-9764400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:9754200-9764400	Strong transcription	Adipose Nuclei	Adipose
11	chr11:9754400-9764400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:9754800-9764400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:9755000-9777600	Weak transcription	Colonic Mucosa	Colon
14	chr11:9755400-9769800	Weak transcription	Pancreas	Pancrea
15	chr11:9756600-9764400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:9756800-9764400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:9756800-9764400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:9757400-9764600	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:9757400-9766400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:9757400-9769200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:9757600-9763600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:9757600-9774600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:9757800-9764400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:9757800-9764400	Strong transcription	Fetal Stomach	stomach
25	chr11:9758000-9763200	Strong transcription	Stomach Smooth Muscle	stomach
26	chr11:9758000-9763600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:9758200-9764400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:9758400-9769800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr11:9758400-9769800	Weak transcription	Stomach Mucosa	stomach
30	chr11:9758800-9763400	Strong transcription	HSMM	muscle
31	chr11:9758800-9769800	Weak transcription	Brain Anterior Caudate	brain
32	chr11:9758800-9776000	Weak transcription	Brain Germinal Matrix	brain
33	chr11:9759200-9769400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr11:9759400-9763800	Strong transcription	HMEC	breast
35	chr11:9759400-9764400	Strong transcription	NHDF-Ad	bronchial
36	chr11:9759600-9763200	Strong transcription	Hela-S3	cervix
37	chr11:9759600-9763200	Strong transcription	HepG2	liver
38	chr11:9759600-9764400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:9759600-9764400	Strong transcription	NHLF	lung
40	chr11:9759800-9764400	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr11:9759800-9764400	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr11:9760000-9764400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:9760000-9764400	Strong transcription	Left Ventricle	heart
44	chr11:9760200-9763800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:9760200-9764400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:9760200-9764400	Strong transcription	Fetal Muscle Leg	muscle
47	chr11:9760200-9764400	Strong transcription	Lung	lung
48	chr11:9760200-9764400	Strong transcription	HSMMtube	muscle
49	chr11:9760200-9764400	Strong transcription	HUVEC	blood vessel
50	chr11:9760400-9763200	Genic enhancers	Fetal Intestine Large	intestine

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