Variant report

Variant	rs2708864
Chromosome Location	chr7:48010978-48010979
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:48005343..48009057-chr7:48009774..48012451,3	K562	blood:
2	chr7:48008512..48011400-chr7:48014003..48016517,2	MCF-7	breast:
3	chr7:48008475..48011442-chr7:48016740..48019056,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136273	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10247714	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532323	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1879835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1879836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2037484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037486	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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254324	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2686819	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2686822	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2686824	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2686826	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2686828	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs2686829	0.86[CEU][hapmap];0.84[AMR][1000 genomes]
rs2686843	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2708892	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2708907	0.84[AMR][1000 genomes]
rs3176582	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];0.92[ASN][1000 genomes]
rs939903	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]

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	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
5	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47999600-48017600	Strong transcription	Primary T cells from cord blood	blood
2	chr7:47999600-48018000	Strong transcription	Fetal Thymus	thymus
3	chr7:48000200-48016600	Strong transcription	Liver	Liver
4	chr7:48000200-48017800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:48000400-48011200	Strong transcription	Colon Smooth Muscle	Colon
6	chr7:48000400-48016800	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr7:48000400-48017600	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr7:48000400-48017600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr7:48000400-48017600	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:48000400-48017800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:48000400-48017800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:48000600-48011200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:48000600-48011400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:48000600-48015800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:48000600-48017600	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:48001600-48017600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:48002000-48018200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:48004000-48011400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
19	chr7:48005800-48013800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:48007000-48011000	Weak transcription	Brain Germinal Matrix	brain
21	chr7:48007200-48012400	Weak transcription	Gastric	stomach
22	chr7:48007200-48013000	Weak transcription	Right Ventricle	heart
23	chr7:48007200-48013600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:48007200-48013800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:48007400-48012600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:48007400-48018200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr7:48007600-48011000	Weak transcription	Aorta	Aorta
28	chr7:48007600-48012600	Weak transcription	Small Intestine	intestine
29	chr7:48007600-48013000	Weak transcription	Stomach Mucosa	stomach
30	chr7:48007600-48013800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:48007800-48011000	Weak transcription	Esophagus	oesophagus
32	chr7:48007800-48011000	Weak transcription	Fetal Brain Female	brain
33	chr7:48007800-48011000	Weak transcription	HSMMtube	muscle
34	chr7:48007800-48011200	Weak transcription	Ovary	ovary
35	chr7:48007800-48012200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:48007800-48012200	Weak transcription	HepG2	liver
37	chr7:48007800-48012600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:48007800-48013400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:48007800-48013800	Weak transcription	Dnd41	blood
40	chr7:48007800-48015400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:48008200-48012600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr7:48008400-48011000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:48008400-48011000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:48008400-48011000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:48008400-48012400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:48008400-48012800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:48008600-48011200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr7:48008600-48011200	Weak transcription	Fetal Brain Male	brain
49	chr7:48008600-48011200	Weak transcription	NH-A	brain
50	chr7:48008600-48012200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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