Variant report

Variant	rs2713837
Chromosome Location	chr4:106348847-106348848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10015293	0.81[EUR][1000 genomes]
rs1344330	0.82[ASN][1000 genomes]
rs1490591	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1490595	0.81[ASN][1000 genomes]
rs1490606	0.84[EUR][1000 genomes]
rs1565485	0.81[EUR][1000 genomes]
rs1994636	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1994637	0.82[ASN][1000 genomes]
rs2077608	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2130693	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2130694	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2466916	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2636700	0.82[EUR][1000 genomes]
rs2636702	0.82[AMR][1000 genomes]
rs2636711	0.81[ASN][1000 genomes]
rs2636716	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2636718	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2636723	0.84[EUR][1000 genomes]
rs2636725	0.84[EUR][1000 genomes]
rs2636730	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2636731	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2636732	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2636733	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2636734	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2636735	0.82[ASN][1000 genomes]
rs2636737	0.82[ASN][1000 genomes]
rs2636738	0.82[ASN][1000 genomes]
rs2636739	0.82[ASN][1000 genomes]
rs2636741	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2636742	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2636743	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2636746	0.80[ASN][1000 genomes]
rs2636748	0.80[ASN][1000 genomes]
rs2636749	0.80[ASN][1000 genomes]
rs2636751	0.80[ASN][1000 genomes]
rs2713822	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2713823	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2713824	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2713825	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2713827	0.81[EUR][1000 genomes]
rs2713833	0.84[EUR][1000 genomes]
rs2713834	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2713835	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2713838	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2713840	0.81[ASN][1000 genomes]
rs2713841	0.82[ASN][1000 genomes]
rs2713842	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2713850	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2713860	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2713861	0.81[ASN][1000 genomes]
rs2713863	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2713873	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2713874	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2713875	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2713876	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2726454	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2726455	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2726462	0.81[ASN][1000 genomes]
rs2726463	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2726468	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2726472	0.80[ASN][1000 genomes]
rs2726499	0.81[ASN][1000 genomes]
rs2726509	0.82[ASN][1000 genomes]
rs2726514	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2726515	0.82[ASN][1000 genomes]
rs2726516	0.82[ASN][1000 genomes]
rs2866884	0.81[ASN][1000 genomes]
rs4450931	0.82[ASN][1000 genomes]
rs4467572	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs753972	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7673368	0.81[ASN][1000 genomes]
rs7693292	0.81[ASN][1000 genomes]
rs923587	0.81[ASN][1000 genomes]
rs923588	0.81[ASN][1000 genomes]
rs923589	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs923590	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv830027	chr4:106222010-106406738	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv1002228	chr4:106346206-106433381	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106287600-106357000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr4:106309400-106351000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:106321400-106367200	Weak transcription	HUVEC	blood vessel
4	chr4:106321600-106356200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:106321800-106353600	Weak transcription	HMEC	breast
6	chr4:106323600-106372800	Weak transcription	Stomach Mucosa	stomach
7	chr4:106326000-106356400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:106326000-106356600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:106326000-106363200	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:106327200-106365200	Weak transcription	Osteobl	bone
11	chr4:106327200-106389200	Weak transcription	Small Intestine	intestine
12	chr4:106327200-106390600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:106330600-106356400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr4:106336600-106356400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:106336800-106376400	Weak transcription	Right Ventricle	heart
16	chr4:106336800-106387800	Weak transcription	NHLF	lung
17	chr4:106337000-106354400	Weak transcription	Left Ventricle	heart
18	chr4:106337000-106354600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:106337200-106356600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:106340200-106387800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr4:106341600-106376000	Weak transcription	Fetal Heart	heart
22	chr4:106343200-106363000	Weak transcription	Psoas Muscle	Psoas
23	chr4:106343600-106349000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:106344000-106363800	Weak transcription	HepG2	liver
25	chr4:106344200-106352800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:106344400-106349400	Strong transcription	Primary T cells from cord blood	blood
27	chr4:106345200-106350800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr4:106345200-106354400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:106345200-106354800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:106345200-106358800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr4:106346000-106350600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:106346400-106354600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:106346600-106349600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:106346600-106354200	Weak transcription	NH-A	brain
35	chr4:106346600-106369000	Weak transcription	Hela-S3	cervix
36	chr4:106347000-106349000	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:106347000-106349400	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr4:106347200-106366000	Weak transcription	NHDF-Ad	bronchial
39	chr4:106347400-106349600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr4:106347600-106349400	Strong transcription	Brain Angular Gyrus	brain
41	chr4:106347600-106349800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr4:106347600-106350200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:106347600-106351600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:106347600-106355400	Weak transcription	K562	blood
45	chr4:106347600-106367600	Weak transcription	Fetal Brain Male	brain
46	chr4:106347600-106392800	Weak transcription	Colonic Mucosa	Colon
47	chr4:106347800-106349200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr4:106347800-106349600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr4:106347800-106350200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:106347800-106352600	Weak transcription	A549	lung

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