Variant report

Variant	rs588921
Chromosome Location	chr11:107286000-107286001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:107284499..107286176-chr11:107290933..107293416,2	K562	blood:
2	chr11:107285740..107288014-chr11:107318312..107321068,2	K562	blood:
3	chr11:107284097..107287065-chr11:107292500..107294611,2	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1046094	1.00[JPT][hapmap]
rs1046095	1.00[JPT][hapmap]
rs10502087	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10749896	1.00[JPT][hapmap]
rs10749902	0.81[EUR][1000 genomes]
rs10789615	1.00[JPT][hapmap]
rs10789616	0.83[CEU][hapmap];0.92[JPT][hapmap]
rs10789617	1.00[JPT][hapmap]
rs10789618	1.00[JPT][hapmap]
rs10789620	0.84[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs10789621	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10890708	1.00[JPT][hapmap]
rs10890712	1.00[JPT][hapmap]
rs10890717	0.84[EUR][1000 genomes]
rs10890719	0.95[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10890720	0.95[CEU][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10890721	0.88[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes]
rs10890723	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11212163	0.85[EUR][1000 genomes]
rs11212166	0.84[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs11212173	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11212175	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11212177	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11212179	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11212180	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11212181	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11212182	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11212197	0.86[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11212206	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11212207	0.87[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11602033	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11607304	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12223855	0.86[EUR][1000 genomes]
rs12285491	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12286915	0.83[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1490946	0.85[EUR][1000 genomes]
rs1490947	0.86[EUR][1000 genomes]
rs17106875	0.92[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2161965	0.92[ASN][1000 genomes]
rs2356280	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3758911	1.00[JPT][hapmap]
rs4343000	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4387327	1.00[JPT][hapmap]
rs4576794	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4754222	0.90[YRI][hapmap]
rs477991	0.90[YRI][hapmap]
rs500616	0.89[YRI][hapmap]
rs520729	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs555566	0.82[AFR][1000 genomes]
rs56393657	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56753250	0.93[EUR][1000 genomes]
rs590699	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs59525924	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs624584	0.91[EUR][1000 genomes]
rs655448	0.93[ASN][1000 genomes]
rs6588965	1.00[JPT][hapmap]
rs671493	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs687991	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7117615	0.85[ASN][1000 genomes]
rs72990438	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72990443	0.93[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7350479	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7358296	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7358308	0.84[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs999984	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs999985	0.86[AFR][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	nsv898365	chr11:106944975-107430300	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv898366	chr11:106944975-107433835	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv898367	chr11:106944975-107443420	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv898369	chr11:106958304-107443420	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv898370	chr11:107027991-107430300	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv898372	chr11:107049968-107433835	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv898373	chr11:107124903-107433835	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv832261	chr11:107145901-107321562	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv2756363	chr11:107189790-107376790	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv556376	chr11:107250851-107486598	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107195000-107299200	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:107241600-107327800	Weak transcription	HSMMtube	muscle
3	chr11:107252600-107323800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:107255000-107327600	Weak transcription	Fetal Heart	heart
5	chr11:107256600-107298000	Weak transcription	Brain Substantia Nigra	brain
6	chr11:107256600-107327600	Weak transcription	NHDF-Ad	bronchial
7	chr11:107258800-107291800	Weak transcription	Colonic Mucosa	Colon
8	chr11:107258800-107324200	Weak transcription	Small Intestine	intestine
9	chr11:107259200-107299600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:107259600-107323400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:107261600-107310200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:107262200-107324000	Weak transcription	Pancreas	Pancrea
13	chr11:107263200-107286000	Weak transcription	Placenta	Placenta
14	chr11:107263200-107309400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:107263200-107310200	Weak transcription	Psoas Muscle	Psoas
16	chr11:107263200-107310400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:107263400-107287000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:107263400-107287000	Weak transcription	HSMM	muscle
19	chr11:107263400-107298800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:107263600-107298200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr11:107263600-107308200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:107263600-107309400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:107263600-107309400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:107263600-107310600	Weak transcription	Brain Angular Gyrus	brain
25	chr11:107268600-107299400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:107268600-107312200	Weak transcription	K562	blood
27	chr11:107268600-107323400	Weak transcription	Gastric	stomach
28	chr11:107268800-107309400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:107268800-107309400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:107269000-107298400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:107269000-107324600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr11:107269200-107288800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:107269800-107299600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:107270000-107287600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr11:107270000-107312400	Weak transcription	Brain Germinal Matrix	brain
36	chr11:107270200-107287000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:107270200-107287200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:107270200-107287600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:107270800-107286200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:107272600-107312600	Weak transcription	Fetal Brain Female	brain
41	chr11:107274000-107286200	Weak transcription	Fetal Muscle Leg	muscle
42	chr11:107274400-107312600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:107274600-107288400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:107274600-107308800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr11:107274600-107312600	Weak transcription	Lung	lung
46	chr11:107274600-107323400	Weak transcription	Esophagus	oesophagus
47	chr11:107275000-107287600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:107275400-107309400	Weak transcription	Fetal Stomach	stomach
49	chr11:107275400-107309400	Weak transcription	Right Ventricle	heart
50	chr11:107275400-107309400	Weak transcription	Spleen	Spleen

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