Variant report

Variant	rs1620709
Chromosome Location	chr7:112417642-112417643
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112404107..112406032-chr7:112415273..112417652,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1017598	1.00[AMR][1000 genomes]
rs1017599	1.00[AMR][1000 genomes]
rs10267651	1.00[AMR][1000 genomes]
rs1037299	1.00[AMR][1000 genomes]
rs1227156	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227157	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227160	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227161	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227162	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227165	1.00[ASW][hapmap];0.91[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227166	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227167	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227169	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227170	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227173	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227175	0.84[AFR][1000 genomes]
rs1227179	0.86[AFR][1000 genomes]
rs1227180	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227184	0.84[AFR][1000 genomes]
rs1227185	0.84[AFR][1000 genomes]
rs1227186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227188	0.94[AFR][1000 genomes]
rs1227189	0.98[AFR][1000 genomes]
rs1227191	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227193	0.84[AFR][1000 genomes]
rs1234894	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1237908	1.00[AMR][1000 genomes]
rs1375856	1.00[AMR][1000 genomes]
rs1449950	1.00[AMR][1000 genomes]
rs1449952	1.00[AMR][1000 genomes]
rs1522630	1.00[AMR][1000 genomes]
rs1718933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1718942	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1718943	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1718953	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1718954	0.84[ASW][hapmap]
rs1718962	1.00[AMR][1000 genomes]
rs1718968	0.84[AFR][1000 genomes]
rs1796496	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1796499	0.84[AFR][1000 genomes]
rs1796513	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs1796515	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1830470	1.00[AMR][1000 genomes]
rs1830471	1.00[AMR][1000 genomes]
rs1868586	1.00[AMR][1000 genomes]
rs1976990	1.00[AMR][1000 genomes]
rs2103040	1.00[AMR][1000 genomes]
rs2197953	1.00[AMR][1000 genomes]
rs2396584	1.00[AMR][1000 genomes]
rs2396585	1.00[AMR][1000 genomes]
rs2396587	1.00[AMR][1000 genomes]
rs2687263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2687265	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2687268	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2687271	1.00[AMR][1000 genomes]
rs2708294	0.85[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2894660	1.00[AMR][1000 genomes]
rs4727777	1.00[AMR][1000 genomes]
rs501621	1.00[AMR][1000 genomes]
rs551461	1.00[AMR][1000 genomes]
rs59930732	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61390562	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs637075	1.00[AMR][1000 genomes]
rs6466425	1.00[AMR][1000 genomes]
rs7776679	1.00[AMR][1000 genomes]
rs7790704	1.00[AMR][1000 genomes]
rs7790946	1.00[AMR][1000 genomes]
rs7799048	1.00[AMR][1000 genomes]
rs821784	1.00[AMR][1000 genomes]
rs821786	1.00[AMR][1000 genomes]
rs821788	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv2752144	chr7:112398372-112499924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112385400-112422400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:112389000-112422800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:112390200-112422800	Weak transcription	Thymus	Thymus
4	chr7:112391600-112418200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:112393600-112429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:112395200-112422600	Weak transcription	Right Ventricle	heart
7	chr7:112395600-112422400	Weak transcription	Aorta	Aorta
8	chr7:112396200-112428600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:112397000-112418000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:112397000-112428000	Weak transcription	Fetal Intestine Small	intestine
11	chr7:112397400-112422200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:112397600-112429600	Weak transcription	Pancreas	Pancrea
13	chr7:112398800-112428800	Weak transcription	Gastric	stomach
14	chr7:112400000-112426800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:112400200-112422400	Weak transcription	Left Ventricle	heart
16	chr7:112400200-112429000	Weak transcription	HSMM	muscle
17	chr7:112400600-112428600	Weak transcription	Brain Substantia Nigra	brain
18	chr7:112403400-112428600	Weak transcription	Fetal Stomach	stomach
19	chr7:112404800-112422400	Weak transcription	Fetal Thymus	thymus
20	chr7:112404800-112422400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:112404800-112427000	Weak transcription	Small Intestine	intestine
22	chr7:112404800-112428800	Weak transcription	Spleen	Spleen
23	chr7:112405000-112421200	Weak transcription	HUVEC	blood vessel
24	chr7:112405000-112423400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:112405200-112422400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr7:112405200-112422600	Weak transcription	Liver	Liver
27	chr7:112405400-112419800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr7:112405400-112423200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr7:112405400-112423400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:112405400-112428400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr7:112405600-112420000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr7:112405600-112422400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr7:112405600-112428800	Weak transcription	Osteobl	bone
34	chr7:112405800-112421400	Weak transcription	Stomach Mucosa	stomach
35	chr7:112405800-112422800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr7:112405800-112422800	Weak transcription	Lung	lung
37	chr7:112405800-112422800	Weak transcription	K562	blood
38	chr7:112405800-112428200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:112405800-112428800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr7:112406000-112422600	Weak transcription	Fetal Muscle Leg	muscle
41	chr7:112406000-112428800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:112406000-112429000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:112406200-112418000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr7:112406200-112422600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:112406200-112422800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:112406400-112422400	Weak transcription	Psoas Muscle	Psoas
47	chr7:112406400-112422800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr7:112406400-112428800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:112406400-112429000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:112406600-112428400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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