Variant report

Variant	rs1078930
Chromosome Location	chr11:45204071-45204072
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45164160..45171283-chr11:45198764..45207868,26	MCF-7	breast:
2	chr11:45167893..45171206-chr11:45200303..45204446,5	MCF-7	breast:
3	chr11:45167440..45169930-chr11:45202656..45204248,2	K562	blood:

Variant related genes	Relation type
ENSG00000019485	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10742743	0.82[JPT][hapmap]
rs10742744	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10742745	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10742746	0.97[ASN][1000 genomes]
rs10838425	0.82[JPT][hapmap]
rs10838426	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11038356	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11038361	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12281438	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2863159	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3758722	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3758728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3781706	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4755948	1.00[EUR][1000 genomes]
rs4755953	0.82[JPT][hapmap]
rs6416128	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6485594	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6485595	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6485596	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6485597	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6485598	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6485599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6485601	1.00[EUR][1000 genomes]
rs6485602	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs746555	1.00[EUR][1000 genomes]
rs7937949	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7942214	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942347	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945018	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825852	chr11:45141386-45228580	Bivalent/Poised TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1048493	chr11:45166054-45205695	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45202000-45204600	Weak transcription	Liver	Liver
2	chr11:45202000-45205400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:45202000-45206600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:45202000-45207600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr11:45202000-45220000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:45202200-45204600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:45202400-45204200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:45202600-45204600	Weak transcription	Primary B cells from cord blood	blood
9	chr11:45202800-45206200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:45202800-45234000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:45203000-45204200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:45203000-45204200	Enhancers	Brain Substantia Nigra	brain
13	chr11:45203000-45204200	Enhancers	Gastric	stomach
14	chr11:45203000-45204400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr11:45203000-45204800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:45203000-45206400	Weak transcription	NHDF-Ad	bronchial
17	chr11:45203000-45208400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:45203000-45209600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:45203000-45213400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr11:45203000-45237000	Weak transcription	Small Intestine	intestine
21	chr11:45203200-45204200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr11:45203200-45204400	Enhancers	Colon Smooth Muscle	Colon
23	chr11:45203200-45204600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:45203200-45204800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:45203200-45204800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:45203200-45204800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr11:45203200-45205000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:45203200-45205000	Weak transcription	HSMMtube	muscle
29	chr11:45203200-45205000	Weak transcription	K562	blood
30	chr11:45203200-45205800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:45203200-45206200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:45203200-45208400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:45203200-45209600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:45203200-45211000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:45203200-45212400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:45203200-45213000	Weak transcription	HSMM	muscle
37	chr11:45203200-45215200	Weak transcription	Psoas Muscle	Psoas
38	chr11:45203400-45204600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:45203400-45204600	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:45203400-45204800	Weak transcription	Adipose Nuclei	Adipose
41	chr11:45203400-45204800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr11:45203400-45205000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:45203400-45205000	Weak transcription	Colonic Mucosa	Colon
44	chr11:45203400-45205000	Genic enhancers	Fetal Stomach	stomach
45	chr11:45203400-45205600	Weak transcription	Primary T cells from cord blood	blood
46	chr11:45203400-45206200	Weak transcription	HUVEC	blood vessel
47	chr11:45203400-45206600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr11:45203400-45206800	Enhancers	Fetal Heart	heart
49	chr11:45203400-45207200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr11:45203400-45209000	Weak transcription	Brain Angular Gyrus	brain

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