Variant report

Variant	rs2693722
Chromosome Location	chr7:129498500-129498501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1725079	1.00[EUR][1000 genomes]
rs2255639	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2631601	0.93[YRI][hapmap]
rs2631604	1.00[GIH][hapmap];0.81[LWK][hapmap];0.87[MKK][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2693740	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2693741	1.00[EUR][1000 genomes]
rs2693742	1.00[EUR][1000 genomes]
rs2693743	1.00[EUR][1000 genomes]
rs2693747	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2693748	1.00[EUR][1000 genomes]
rs2708641	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2708653	1.00[YRI][hapmap]
rs2727459	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727460	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2727461	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2727465	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2727467	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2727476	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs2727480	1.00[GIH][hapmap];0.81[LWK][hapmap];0.87[MKK][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2727481	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727485	1.00[EUR][1000 genomes]
rs2727494	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2727495	1.00[EUR][1000 genomes]
rs2727501	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73469781	1.00[EUR][1000 genomes]
rs73469795	1.00[EUR][1000 genomes]
rs7804954	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129475000-129534800	Weak transcription	Colonic Mucosa	Colon
2	chr7:129479400-129543600	Weak transcription	Thymus	Thymus
3	chr7:129481400-129499800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:129481400-129510000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:129484200-129498600	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:129484200-129503000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:129485400-129498600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:129485400-129503800	Weak transcription	Lung	lung
9	chr7:129485600-129502400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:129486400-129502400	Weak transcription	Esophagus	oesophagus
11	chr7:129486400-129505400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:129486600-129501400	Weak transcription	Right Ventricle	heart
13	chr7:129486800-129499200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:129487200-129502400	Weak transcription	Ovary	ovary
15	chr7:129488200-129499600	Weak transcription	Left Ventricle	heart
16	chr7:129491600-129510000	Weak transcription	Fetal Intestine Large	intestine
17	chr7:129491800-129502000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:129492000-129498800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:129492000-129499400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:129492000-129501200	Weak transcription	Stomach Mucosa	stomach
21	chr7:129492000-129509200	Weak transcription	Fetal Intestine Small	intestine
22	chr7:129492200-129499200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:129492200-129501800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:129492200-129502400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:129492600-129502400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:129493000-129500800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:129493800-129499600	Weak transcription	Spleen	Spleen
28	chr7:129493800-129502400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:129493800-129502400	Weak transcription	HSMMtube	muscle
30	chr7:129493800-129510400	Weak transcription	Brain Germinal Matrix	brain
31	chr7:129494400-129498600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr7:129494400-129499400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr7:129494400-129499800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:129494400-129502200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr7:129494400-129502400	Weak transcription	Brain Angular Gyrus	brain
36	chr7:129494400-129502400	Weak transcription	Gastric	stomach
37	chr7:129494400-129518800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:129494600-129498600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr7:129494600-129499000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:129494800-129498600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:129495000-129499200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:129495000-129500600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:129495000-129502000	Weak transcription	Fetal Kidney	kidney
44	chr7:129495200-129498600	Weak transcription	Colon Smooth Muscle	Colon
45	chr7:129495200-129499200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:129495400-129498600	Enhancers	Fetal Heart	heart
47	chr7:129495400-129510400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr7:129495600-129500600	Weak transcription	HUVEC	blood vessel
49	chr7:129495600-129502400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:129495600-129517000	Weak transcription	Fetal Lung	lung

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