Variant report

Variant	rs17119507
Chromosome Location	chr2:97219047-97219048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97202772..97204469-chr2:97218141..97220176,2	MCF-7	breast:
2	chr2:97204810..97207371-chr2:97218053..97221683,3	MCF-7	breast:
3	chr2:97202688..97205272-chr2:97216353..97219452,4	K562	blood:
4	chr2:97216922..97219921-chr2:97223099..97224803,2	K562	blood:

Variant related genes	Relation type
ENSG00000196843	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10427212	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119523	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292939	1.00[CEU][hapmap]
rs59021132	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59118112	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60378028	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60501446	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576973	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6576975	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715933	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719267	1.00[ASN][1000 genomes]
rs6723188	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939377	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605469	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608325	1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9752465	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97203800-97220000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:97204400-97220000	Weak transcription	HSMM	muscle
3	chr2:97205800-97220000	Weak transcription	Primary B cells from cord blood	blood
4	chr2:97206000-97220000	Weak transcription	Fetal Heart	heart
5	chr2:97206600-97220000	Weak transcription	NHEK	skin
6	chr2:97206600-97222200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:97207200-97219600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:97207600-97219600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:97209000-97220400	Weak transcription	Psoas Muscle	Psoas
10	chr2:97211800-97219600	Strong transcription	Fetal Stomach	stomach
11	chr2:97212600-97219200	Strong transcription	Spleen	Spleen
12	chr2:97212600-97219200	Strong transcription	GM12878-XiMat	blood
13	chr2:97212600-97220000	Weak transcription	Small Intestine	intestine
14	chr2:97212600-97222400	Weak transcription	K562	blood
15	chr2:97212800-97219200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:97212800-97219400	Strong transcription	Fetal Thymus	thymus
17	chr2:97212800-97219600	Strong transcription	Thymus	Thymus
18	chr2:97213000-97219400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:97213000-97219600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:97213200-97219600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:97213400-97219200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:97213600-97222200	Weak transcription	NH-A	brain
23	chr2:97213800-97219200	Strong transcription	Primary T cells from cord blood	blood
24	chr2:97213800-97219200	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr2:97214000-97220400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:97214000-97220400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:97214000-97223600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:97214200-97219200	Strong transcription	Aorta	Aorta
29	chr2:97214400-97219400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:97214600-97219600	Strong transcription	Stomach Smooth Muscle	stomach
31	chr2:97214600-97220000	Weak transcription	Osteobl	bone
32	chr2:97214600-97221200	Weak transcription	Fetal Lung	lung
33	chr2:97214600-97222800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:97214800-97220200	Weak transcription	Brain Angular Gyrus	brain
35	chr2:97214800-97222200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:97215000-97219200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:97215000-97219400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:97215600-97219400	Strong transcription	Fetal Muscle Leg	muscle
39	chr2:97215600-97219600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:97215600-97220000	Weak transcription	HUVEC	blood vessel
41	chr2:97215800-97219400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:97215800-97219400	Strong transcription	Fetal Muscle Trunk	muscle
43	chr2:97215800-97219400	Strong transcription	Lung	lung
44	chr2:97215800-97219400	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:97215800-97220400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:97216400-97219200	Strong transcription	Placenta	Placenta
47	chr2:97216400-97219400	Strong transcription	Gastric	stomach
48	chr2:97216400-97220000	Weak transcription	Pancreas	Pancrea
49	chr2:97216400-97220000	Weak transcription	A549	lung
50	chr2:97216600-97220000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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