Variant report

Variant	rs10191001
Chromosome Location	chr2:100085581-100085582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100084922..100089797-chr2:100104456..100108052,9	MCF-7	breast:
2	chr2:100079142..100082364-chr2:100082502..100085624,3	K562	blood:
3	chr2:100083971..100085589-chr2:100104836..100106610,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135945	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10173883	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10175852	0.88[ASN][1000 genomes]
rs10176205	0.88[ASN][1000 genomes]
rs10179343	0.88[ASN][1000 genomes]
rs10179435	0.88[ASN][1000 genomes]
rs10179697	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10180138	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10180688	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10182492	1.00[JPT][hapmap]
rs10186223	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10207435	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10210257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10210346	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10496337	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11123783	0.88[ASN][1000 genomes]
rs11123784	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12162367	0.88[ASN][1000 genomes]
rs12623835	0.88[ASN][1000 genomes]
rs12992356	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13028722	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13384665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[ASN][1000 genomes]
rs13394927	1.00[JPT][hapmap]
rs13401163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13402784	1.00[JPT][hapmap]
rs13405400	0.88[ASN][1000 genomes]
rs13409359	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13415713	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13416265	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13419448	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13420087	0.88[ASN][1000 genomes]
rs13420293	1.00[JPT][hapmap]
rs13426758	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13427424	0.88[ASN][1000 genomes]
rs13429185	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13429806	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13430662	0.81[ASN][1000 genomes]
rs13430962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13431410	1.00[CHB][hapmap]
rs13432046	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17022653	1.00[JPT][hapmap]
rs17022663	1.00[JPT][hapmap]
rs1882598	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1922625	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2309577	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs28369949	0.88[ASN][1000 genomes]
rs28382945	0.88[ASN][1000 genomes]
rs28382947	0.88[ASN][1000 genomes]
rs28745279	0.81[ASN][1000 genomes]
rs3087399	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3792151	1.00[JPT][hapmap]
rs3828162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4522654	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4850902	0.88[ASN][1000 genomes]
rs4851199	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4851201	0.88[ASN][1000 genomes]
rs6706425	0.88[ASN][1000 genomes]
rs6712137	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6721031	0.88[ASN][1000 genomes]
rs6726711	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6745645	0.88[ASN][1000 genomes]
rs72815074	0.88[ASN][1000 genomes]
rs7569805	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7579143	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7579171	0.88[ASN][1000 genomes]
rs7582085	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7582133	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7584022	0.88[ASN][1000 genomes]
rs7599384	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7603388	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7606279	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9308819	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9308821	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9308822	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9308823	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer 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
2	nsv1014604	chr2:99980851-100097884	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1006625	chr2:99984550-100096371	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv874700	chr2:100062163-100099989	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv535841	chr2:100072790-100112121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100034200-100088800	Weak transcription	Small Intestine	intestine
2	chr2:100048200-100090600	Weak transcription	Stomach Mucosa	stomach
3	chr2:100055800-100089000	Weak transcription	Pancreas	Pancrea
4	chr2:100055800-100092600	Weak transcription	Gastric	stomach
5	chr2:100056600-100091000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:100065400-100087400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:100073400-100090000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:100075200-100090400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:100075200-100103000	Weak transcription	Hela-S3	cervix
10	chr2:100076200-100098400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:100076200-100105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:100076600-100094800	Weak transcription	Spleen	Spleen
13	chr2:100076600-100104200	Weak transcription	NHLF	lung
14	chr2:100078600-100085800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:100078600-100087400	Weak transcription	HMEC	breast
16	chr2:100078600-100087600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:100078600-100088600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:100078600-100088800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:100078600-100091000	Weak transcription	Aorta	Aorta
20	chr2:100078600-100091000	Weak transcription	Lung	lung
21	chr2:100078600-100092200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:100078600-100092600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:100078600-100096800	Weak transcription	NH-A	brain
24	chr2:100078800-100088800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:100078800-100089000	Weak transcription	Ovary	ovary
26	chr2:100078800-100090000	Weak transcription	HUVEC	blood vessel
27	chr2:100078800-100090200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:100078800-100090600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:100078800-100091000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:100078800-100091400	Weak transcription	Adipose Nuclei	Adipose
31	chr2:100078800-100091800	Weak transcription	Fetal Kidney	kidney
32	chr2:100078800-100093200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:100078800-100101400	Weak transcription	Fetal Lung	lung
34	chr2:100078800-100103000	Weak transcription	Primary B cells from cord blood	blood
35	chr2:100078800-100105000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:100079000-100087000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:100079000-100088400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr2:100079000-100090000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:100079000-100091400	Weak transcription	Osteobl	bone
40	chr2:100079000-100091600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:100079200-100086600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:100079200-100087000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:100079200-100087000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:100079200-100087000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:100079200-100087200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:100079200-100088800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:100079200-100088800	Weak transcription	A549	lung
48	chr2:100079200-100090200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:100079200-100091000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:100079200-100091600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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