Variant report

Variant	rs928948
Chromosome Location	chr11:63639881-63639882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63634093..63635868-chr11:63638259..63640200,2	MCF-7	breast:
2	chr11:63639764..63641367-chr11:63706177..63708307,2	K562	blood:
3	chr11:63608850..63609389-chr11:63639613..63640274,2	MCF-7	breast:
4	chr11:63639315..63642041-chr11:63653506..63655587,2	K562	blood:
5	chr11:63621538..63623574-chr11:63638345..63640318,2	K562	blood:
6	chr11:63635434..63638367-chr11:63639595..63642055,4	K562	blood:
7	chr11:63604419..63605581-chr11:63639188..63640136,5	K562	blood:
8	chr11:63580382..63585529-chr11:63638701..63641803,4	K562	blood:
9	chr11:63603344..63615182-chr11:63634321..63647771,46	MCF-7	breast:
10	chr11:63636831..63641695-chr11:63668952..63673218,5	K562	blood:
11	chr11:63638820..63641082-chr11:63705449..63707917,2	MCF-7	breast:
12	chr11:63604403..63605521-chr11:63639170..63640537,5	MCF-7	breast:
13	chr11:63545717..63547478-chr11:63639662..63641996,2	MCF-7	breast:
14	chr11:63639701..63640231-chr11:63668965..63669635,2	MCF-7	breast:
15	chr11:63636152..63638367-chr11:63639595..63642055,3	K562	blood:
16	chr11:63639079..63641485-chr11:63671930..63674696,2	MCF-7	breast:
17	chr11:63581119..63583081-chr11:63638472..63640533,2	K562	blood:
18	chr11:63533785..63536381-chr11:63639812..63642533,2	MCF-7	breast:
19	chr11:63604963..63609785-chr11:63634052..63642181,26	MCF-7	breast:
20	chr11:63639014..63641483-chr11:63650269..63652057,2	MCF-7	breast:
21	chr11:63628759..63635867-chr11:63636847..63643133,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168005	Chromatin interaction
ENSG00000255651	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10736731	0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10751001	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10792421	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10792422	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10792423	0.91[ASN][1000 genomes]
rs10897452	0.87[ASN][1000 genomes]
rs10897453	0.93[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs10897454	0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10897456	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10897459	1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10897465	0.81[CEU][hapmap]
rs11231600	1.00[JPT][hapmap]
rs11231623	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11231628	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231640	0.81[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11231643	0.83[EUR][1000 genomes]
rs11231646	0.88[TSI][hapmap]
rs11231662	0.92[CEU][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap]
rs11231664	0.92[CEU][hapmap]
rs11231670	0.92[CEU][hapmap]
rs11231671	0.92[CEU][hapmap];0.81[TSI][hapmap]
rs11605500	0.90[ASN][1000 genomes]
rs11605797	0.92[CEU][hapmap];0.84[TSI][hapmap]
rs12277481	0.91[ASN][1000 genomes]
rs12576275	0.92[ASN][1000 genomes]
rs12786124	1.00[CEU][hapmap];0.89[GIH][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs12792726	0.94[EUR][1000 genomes]
rs12793201	0.83[EUR][1000 genomes]
rs12794404	0.82[EUR][1000 genomes]
rs12800703	0.87[CEU][hapmap]
rs1872772	0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs224173	0.93[EUR][1000 genomes]
rs2318126	1.00[CEU][hapmap];0.98[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs2840079	0.80[CHD][hapmap];0.90[JPT][hapmap]
rs3019785	0.92[EUR][1000 genomes]
rs3740637	0.88[CEU][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap]
rs3802941	0.86[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs3850943	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs449047	1.00[CEU][hapmap];0.83[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs454474	1.00[CEU][hapmap];0.86[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs492357	0.89[CEU][hapmap]
rs4963433	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4980499	0.92[CEU][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap]
rs4980500	0.92[CEU][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap]
rs4980503	0.90[ASN][1000 genomes]
rs4980505	0.95[ASN][1000 genomes]
rs4980507	0.95[ASN][1000 genomes]
rs4980528	0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4980529	0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4980530	1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4980532	0.90[ASN][1000 genomes]
rs4980533	0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs504060	0.89[CEU][hapmap]
rs509701	0.88[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap]
rs61604723	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61886128	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6591825	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7102006	0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7108375	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7110843	0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7118913	0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7928919	0.90[EUR][1000 genomes]
rs7937314	0.92[ASN][1000 genomes]
rs7939416	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7944519	0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7948656	0.87[ASN][1000 genomes]
rs923247	0.95[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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1839119	chr11:63615554-63680052	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs928948	SLC22A8	cis	parietal	SCAN
rs928948	FADS2	cis	parietal	SCAN
rs928948	NAALADL1	cis	cerebellum	SCAN
rs928948	ZBTB3	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63628800-63644200	Genic enhancers	Fetal Intestine Small	intestine
2	chr11:63630000-63640000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:63630600-63642200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr11:63630800-63641600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr11:63632400-63642600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:63632400-63643400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:63632400-63643600	Enhancers	Pancreas	Pancrea
8	chr11:63632600-63640800	Enhancers	Placenta	Placenta
9	chr11:63633000-63646800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:63633000-63646800	Weak transcription	Fetal Brain Female	brain
11	chr11:63633200-63644800	Enhancers	Brain Substantia Nigra	brain
12	chr11:63634200-63642400	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr11:63635600-63641400	Enhancers	Esophagus	oesophagus
14	chr11:63636000-63641400	Enhancers	Spleen	Spleen
15	chr11:63636000-63642600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr11:63636000-63644800	Enhancers	Brain Angular Gyrus	brain
17	chr11:63636200-63640800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:63636400-63642000	Enhancers	Primary hematopoietic stem cells	blood
19	chr11:63636400-63642200	Enhancers	Fetal Muscle Leg	muscle
20	chr11:63636400-63642400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:63636400-63643000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:63637000-63641000	Enhancers	Fetal Lung	lung
23	chr11:63637000-63641000	Enhancers	NHDF-Ad	bronchial
24	chr11:63637000-63643200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr11:63637200-63643000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr11:63637400-63640000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:63637400-63641000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr11:63637600-63640200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:63637600-63643600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:63637600-63647000	Strong transcription	Dnd41	blood
31	chr11:63637800-63640200	Enhancers	NH-A	brain
32	chr11:63637800-63641600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr11:63637800-63653200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr11:63638000-63642000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:63638200-63641200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:63638200-63641800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr11:63638400-63640200	Enhancers	Primary B cells from peripheral blood	blood
38	chr11:63638400-63640200	Enhancers	HUVEC	blood vessel
39	chr11:63638400-63640800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:63638600-63640200	Enhancers	GM12878-XiMat	blood
41	chr11:63638600-63641200	Enhancers	HMEC	breast
42	chr11:63638800-63640800	Enhancers	Fetal Thymus	thymus
43	chr11:63638800-63642400	Enhancers	Psoas Muscle	Psoas
44	chr11:63639000-63640000	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr11:63639000-63642000	Enhancers	Primary T cells from cord blood	blood
46	chr11:63639000-63643200	Enhancers	Fetal Intestine Large	intestine
47	chr11:63639200-63640200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:63639200-63640200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:63639200-63640200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:63639200-63640800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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