Variant report

Variant	rs2114197
Chromosome Location	chr8:131257057-131257058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131256131..131258801-chr8:131266345..131268864,3	MCF-7	breast:
2	chr8:131251770..131253963-chr8:131254539..131258197,4	K562	blood:
3	chr8:131248177..131251227-chr8:131256554..131258838,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1030386	1.00[CEU][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11993716	0.85[ASN][1000 genomes]
rs12675936	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12676014	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12676577	0.82[EUR][1000 genomes]
rs12681590	1.00[CEU][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13253189	0.83[YRI][hapmap];0.85[ASN][1000 genomes]
rs13269931	0.93[ASN][1000 genomes]
rs1340020	0.80[YRI][hapmap]
rs16904201	1.00[CEU][hapmap];0.93[YRI][hapmap];0.86[EUR][1000 genomes]
rs16904220	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16904228	0.88[YRI][hapmap];1.00[ASN][1000 genomes]
rs34387098	0.93[ASN][1000 genomes]
rs34857454	0.93[ASN][1000 genomes]
rs36004599	0.93[ASN][1000 genomes]
rs55815182	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56086422	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58012966	0.92[ASN][1000 genomes]
rs61558949	0.85[ASN][1000 genomes]
rs66488832	0.82[ASN][1000 genomes]
rs6986746	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006658	0.85[ASN][1000 genomes]
rs7014715	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7017795	0.85[CEU][hapmap];0.84[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7018391	0.84[YRI][hapmap];0.93[ASN][1000 genomes]
rs73425364	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7822764	1.00[CEU][hapmap];0.94[YRI][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7836536	1.00[CEU][hapmap];0.82[YRI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9942745	0.84[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131209600-131261200	Weak transcription	Esophagus	oesophagus
2	chr8:131217000-131260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:131225800-131274800	Weak transcription	Hela-S3	cervix
4	chr8:131232400-131261200	Weak transcription	Fetal Stomach	stomach
5	chr8:131237400-131268000	Weak transcription	Fetal Lung	lung
6	chr8:131237600-131258000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:131242400-131268200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:131244000-131262400	Weak transcription	Fetal Brain Female	brain
9	chr8:131244400-131259800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:131246200-131257200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:131247000-131258200	Weak transcription	Pancreas	Pancrea
12	chr8:131248400-131258600	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:131249000-131259600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:131250000-131267000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:131250600-131259200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:131250800-131260200	Weak transcription	HMEC	breast
17	chr8:131250800-131266800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:131250800-131270600	Weak transcription	NH-A	brain
19	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:131251200-131258200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:131251600-131257400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:131251600-131257600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:131251800-131260200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr8:131252000-131262800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr8:131252000-131263000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr8:131252200-131270400	Weak transcription	Aorta	Aorta
27	chr8:131252400-131259800	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr8:131252400-131260400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:131252400-131260600	Weak transcription	K562	blood
30	chr8:131253400-131257200	Weak transcription	A549	lung
31	chr8:131253400-131257800	Weak transcription	HepG2	liver
32	chr8:131254000-131262200	Enhancers	Primary T cells fromperipheralblood	blood
33	chr8:131254200-131262800	Enhancers	Primary B cells from peripheral blood	blood
34	chr8:131254600-131262200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:131254800-131262400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:131255000-131257400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr8:131255000-131257400	Enhancers	Brain Hippocampus Middle	brain
38	chr8:131255000-131257400	Enhancers	Brain Substantia Nigra	brain
39	chr8:131255200-131257200	Enhancers	Brain Anterior Caudate	brain
40	chr8:131255200-131258400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:131255200-131259000	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr8:131255200-131260000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:131255400-131265200	Weak transcription	HSMM	muscle
44	chr8:131255600-131259200	Enhancers	Primary hematopoietic stem cells	blood
45	chr8:131255800-131257600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr8:131255800-131258000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:131255800-131258800	Enhancers	Small Intestine	intestine
48	chr8:131256000-131257200	Weak transcription	Colon Smooth Muscle	Colon
49	chr8:131256000-131257400	Enhancers	NHDF-Ad	bronchial
50	chr8:131256000-131258400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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