Variant report

Variant	rs11601310
Chromosome Location	chr11:48085189-48085190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:48083070..48085451-chr11:48088899..48092016,4	K562	blood:
2	chr11:48080961..48082777-chr11:48083891..48085697,2	MCF-7	breast:
3	chr11:48069835..48071887-chr11:48083817..48085807,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1039484	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs1039485	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10734561	0.86[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs10742826	0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10742827	0.85[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs10769310	0.95[ASN][1000 genomes]
rs10769311	0.95[ASN][1000 genomes]
rs10769312	0.89[ASW][hapmap];0.80[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs10769313	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs10769314	0.86[ASN][1000 genomes]
rs10838798	0.80[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs10838800	0.89[ASW][hapmap];0.80[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs10838801	0.82[ASN][1000 genomes]
rs10838802	0.85[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs11039513	0.83[ASN][1000 genomes]
rs11039516	0.81[AFR][1000 genomes]
rs11039530	1.00[YRI][hapmap]
rs11039543	1.00[YRI][hapmap]
rs1113480	0.89[ASW][hapmap];0.94[CHD][hapmap];0.84[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap]
rs1472681	0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs1566732	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs1967211	0.84[ASN][1000 genomes]
rs2870080	1.00[YRI][hapmap]
rs2904315	0.89[ASW][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs4256933	0.80[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4298856	0.87[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4412719	0.85[ASN][1000 genomes]
rs4508163	0.90[ASN][1000 genomes]
rs4752805	1.00[YRI][hapmap]
rs4752894	1.00[LWK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs4752904	1.00[YRI][hapmap]
rs4752907	1.00[YRI][hapmap]
rs6485802	0.82[CHD][hapmap];0.92[LWK][hapmap];1.00[YRI][hapmap]
rs6485806	0.90[JPT][hapmap]
rs6485807	0.89[ASW][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs7114598	0.85[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs7118665	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7122335	0.90[JPT][hapmap]
rs7395231	0.80[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs7396592	0.85[ASN][1000 genomes]
rs7479361	0.82[CHD][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7927965	1.00[YRI][hapmap]
rs7934659	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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 miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer 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	10 gene(s)	inside rSNPs	diseases
9	nsv1053145	chr11:47967902-48086950	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv870381	chr11:47989434-48142648	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
11	esv3396029	chr11:47993857-48241494	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
12	nsv897327	chr11:48004369-48911660	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
13	nsv869124	chr11:48014539-48783113	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv1051805	chr11:48016488-48378048	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
15	nsv428573	chr11:48032457-48152344	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
16	nsv897328	chr11:48043053-48901553	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv897329	chr11:48052676-48319974	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
18	nsv1048554	chr11:48062861-48388686	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
19	nsv1038210	chr11:48068862-48388686	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
20	nsv1052076	chr11:48077864-48702549	ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48077400-48085200	Weak transcription	Adipose Nuclei	Adipose
2	chr11:48077400-48088600	Weak transcription	Right Atrium	heart
3	chr11:48077800-48085600	Weak transcription	Fetal Intestine Large	intestine
4	chr11:48077800-48088800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:48078000-48086000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr11:48078200-48090600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:48078600-48086400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:48078600-48088600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:48078800-48085600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:48078800-48093000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:48079000-48085200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:48079200-48085800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:48079200-48088800	Weak transcription	Esophagus	oesophagus
14	chr11:48079200-48102800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:48080000-48085600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:48080000-48085800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:48080000-48086000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr11:48080200-48085600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:48080600-48100800	Weak transcription	Spleen	Spleen
20	chr11:48081200-48094600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:48081400-48085800	Weak transcription	Pancreas	Pancrea
22	chr11:48081600-48097200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:48081800-48085200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:48081800-48101600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:48082000-48085200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr11:48082000-48096000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr11:48082200-48086000	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr11:48082200-48087600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:48082200-48088600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr11:48082400-48086000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr11:48082400-48086600	Enhancers	Placenta	Placenta
32	chr11:48082800-48085600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:48083000-48085800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:48083200-48085600	Weak transcription	Fetal Thymus	thymus
35	chr11:48083200-48088200	Weak transcription	Gastric	stomach
36	chr11:48083200-48088600	Weak transcription	Lung	lung
37	chr11:48083400-48085600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:48083400-48085600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:48083400-48085600	Weak transcription	Stomach Mucosa	stomach
40	chr11:48083400-48085800	Weak transcription	Fetal Intestine Small	intestine
41	chr11:48083400-48086000	Enhancers	K562	blood
42	chr11:48083400-48087600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:48083400-48088200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:48083400-48088400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:48083600-48086600	Enhancers	Fetal Muscle Leg	muscle
46	chr11:48083800-48085400	Enhancers	HSMM	muscle
47	chr11:48084000-48085400	Enhancers	Muscle Satellite Cultured Cells	--
48	chr11:48084000-48085400	Enhancers	Osteobl	bone
49	chr11:48084000-48085800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:48084000-48086200	Enhancers	Placenta Amnion	Placenta Amnion

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