Variant report

Variant	rs2120817
Chromosome Location	chr4:82376938-82376939
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1077802	0.92[ASW][hapmap];0.87[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1077803	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1444893	0.89[MKK][hapmap];0.85[YRI][hapmap]
rs1562138	0.92[ASW][hapmap];0.87[CEU][hapmap];0.82[CHB][hapmap];0.86[MEX][hapmap];0.86[MKK][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17005141	0.80[CHB][hapmap]
rs2159657	0.85[CHD][hapmap]
rs28409763	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28464436	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59383678	0.80[ASN][1000 genomes]
rs6814080	0.83[CEU][hapmap];0.88[CHB][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6839120	0.85[ASW][hapmap];0.83[CEU][hapmap];0.88[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6847612	0.82[CHB][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs748436	0.92[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs755527	0.87[CEU][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs895086	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs9307783	0.91[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];0.90[LWK][hapmap];0.85[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS 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	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS 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	7 gene(s)	inside rSNPs	diseases
3	nsv4404	chr4:82340986-82386148	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv829986	chr4:82345163-82509860	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82345600-82380600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:82345800-82385800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:82346200-82381600	Strong transcription	Fetal Thymus	thymus
4	chr4:82346600-82380800	Strong transcription	Adipose Nuclei	Adipose
5	chr4:82346600-82386600	Weak transcription	Psoas Muscle	Psoas
6	chr4:82346600-82388400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:82346800-82382400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:82347200-82378800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:82349000-82385200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:82351000-82377600	Weak transcription	Right Ventricle	heart
11	chr4:82351800-82382800	Weak transcription	Spleen	Spleen
12	chr4:82352400-82390000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:82354200-82390800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:82358800-82380600	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr4:82359200-82381000	Strong transcription	Primary T cells from cord blood	blood
16	chr4:82361200-82382800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:82361400-82386600	Weak transcription	Fetal Kidney	kidney
18	chr4:82362200-82389800	Weak transcription	Fetal Brain Male	brain
19	chr4:82362600-82380200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:82363600-82390400	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:82363600-82391000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr4:82367200-82378600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:82368200-82391400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr4:82368800-82383000	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:82369400-82377800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr4:82369400-82381600	Weak transcription	Gastric	stomach
27	chr4:82369400-82390000	Weak transcription	Brain Germinal Matrix	brain
28	chr4:82369600-82377600	Weak transcription	Colonic Mucosa	Colon
29	chr4:82369600-82381400	Weak transcription	Esophagus	oesophagus
30	chr4:82369600-82381600	Weak transcription	Fetal Brain Female	brain
31	chr4:82369600-82382000	Weak transcription	Fetal Heart	heart
32	chr4:82369600-82388600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr4:82369600-82391000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:82370400-82380800	Weak transcription	Small Intestine	intestine
35	chr4:82372200-82380600	Strong transcription	Liver	Liver
36	chr4:82373000-82377000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:82373000-82377000	Enhancers	NHEK	skin
38	chr4:82373000-82380600	Strong transcription	Placenta	Placenta
39	chr4:82373200-82381600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:82373600-82380600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:82373600-82390000	Weak transcription	Thymus	Thymus
42	chr4:82374200-82377000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:82374200-82377200	Strong transcription	Lung	lung
44	chr4:82374200-82378400	Strong transcription	Fetal Intestine Large	intestine
45	chr4:82374400-82378600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr4:82374400-82378800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr4:82374600-82378600	Strong transcription	Fetal Stomach	stomach
48	chr4:82374600-82380600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:82374800-82377000	Strong transcription	Fetal Intestine Small	intestine
50	chr4:82374800-82377200	Strong transcription	Skeletal Muscle Female	skeletal muscle

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