Variant report

Variant	rs11994118
Chromosome Location	chr8:96163949-96163950
allele	A/C
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96163106..96166154-chr8:96205325..96207933,3	MCF-7	breast:
2	chr8:96162967..96165619-chr8:96165890..96168034,2	MCF-7	breast:
3	chr8:96157432..96159557-chr8:96163720..96166408,3	K562	blood:
4	chr8:96145054..96149642-chr8:96159048..96164326,7	MCF-7	breast:
5	chr8:96163910..96166560-chr8:96171762..96173400,2	K562	blood:
6	chr8:96161791..96169135-chr8:96169356..96174766,9	MCF-7	breast:
7	chr8:96077355..96081323-chr8:96161993..96165637,3	MCF-7	breast:
8	chr8:96163068..96164585-chr8:96197417..96199368,2	MCF-7	breast:
9	chr8:96148553..96152425-chr8:96162807..96166605,4	MCF-7	breast:
10	chr8:96163530..96165842-chr8:96237237..96239389,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10088488	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10092259	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10099012	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10101612	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10109640	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10956939	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11985227	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987616	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11989019	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12334474	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12335131	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1561716	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28417924	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28431240	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28470215	0.89[EUR][1000 genomes]
rs28512193	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28704607	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58419720	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58536083	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60144755	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60355917	0.81[EUR][1000 genomes]
rs7827540	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7842028	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7842334	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96147200-96172000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:96147800-96172200	Weak transcription	HSMM	muscle
3	chr8:96148400-96171600	Weak transcription	Fetal Stomach	stomach
4	chr8:96150200-96166600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:96150200-96166600	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:96150200-96166600	Weak transcription	Placenta	Placenta
7	chr8:96150400-96166600	Weak transcription	Ovary	ovary
8	chr8:96150400-96169000	Weak transcription	Fetal Kidney	kidney
9	chr8:96150400-96169000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:96150400-96179200	Weak transcription	Fetal Lung	lung
11	chr8:96152800-96166400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:96153000-96165400	Weak transcription	Thymus	Thymus
13	chr8:96153000-96166600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:96153000-96166600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:96154000-96166400	Weak transcription	Fetal Thymus	thymus
16	chr8:96154800-96166400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:96154800-96166600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:96154800-96166600	Weak transcription	Gastric	stomach
19	chr8:96155200-96166600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:96155600-96166400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:96157800-96166400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr8:96158000-96166600	Weak transcription	Pancreas	Pancrea
23	chr8:96158200-96166600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:96158200-96170800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:96158400-96166400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:96158400-96166600	Weak transcription	A549	lung
27	chr8:96158400-96166600	Weak transcription	HepG2	liver
28	chr8:96159600-96165800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:96159800-96164600	Enhancers	NHEK	skin
30	chr8:96160800-96165200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:96160800-96165600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:96161200-96165000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:96161600-96165000	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr8:96161600-96165600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr8:96161600-96168800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:96161800-96164200	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr8:96161800-96166400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:96161800-96167400	Weak transcription	Colonic Mucosa	Colon
39	chr8:96162000-96164400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr8:96162000-96164400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr8:96162000-96165000	Enhancers	Duodenum Mucosa	Duodenum
42	chr8:96162000-96165600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:96162000-96165600	Enhancers	Hela-S3	cervix
44	chr8:96162000-96165800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr8:96162000-96166000	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr8:96162000-96166200	Enhancers	Primary T cells from cord blood	blood
47	chr8:96162000-96167600	Enhancers	Liver	Liver
48	chr8:96162200-96164400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:96162200-96164600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr8:96162200-96165600	Weak transcription	Right Atrium	heart

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