Variant report

Variant	rs17021818
Chromosome Location	chr4:95491516-95491517
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	chr4:95370589..95373583-chr4:95489387..95491583,2	K562	blood:

Variant related genes	Relation type
ENSG00000203436	Chromatin interaction
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10003483	0.85[TSI][hapmap]
rs10009358	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10011209	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10017461	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10019452	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10023909	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10026467	0.85[JPT][hapmap];0.80[EUR][1000 genomes]
rs10034254	0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10516952	0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11722955	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11731783	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[ASN][1000 genomes]
rs11735827	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12331549	0.96[ASN][1000 genomes]
rs13133845	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs17021775	0.94[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes]
rs17021822	1.00[ASN][1000 genomes]
rs17021930	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap]
rs17336470	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[ASN][1000 genomes]
rs1812924	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2006927	0.96[ASN][1000 genomes]
rs28492872	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28533860	0.96[ASN][1000 genomes]
rs28560157	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28579984	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28612590	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28690414	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28717041	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792662	0.88[ASW][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3792665	0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs3805265	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805282	0.94[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs55858829	0.91[EUR][1000 genomes]
rs62316475	0.96[ASN][1000 genomes]
rs62316476	0.96[ASN][1000 genomes]
rs62316477	0.96[ASN][1000 genomes]
rs6840774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6841895	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6843496	0.85[TSI][hapmap]
rs7690869	0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9307143	0.86[EUR][1000 genomes]
rs9307145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307146	0.87[CHD][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9994440	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9997947	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][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	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95479800-95496800	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:95481200-95494600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:95481400-95496800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:95481400-95496800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:95483400-95491600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:95483400-95491800	Weak transcription	Brain Anterior Caudate	brain
7	chr4:95483400-95496600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:95483400-95496800	Weak transcription	NHEK	skin
9	chr4:95483400-95524400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:95483600-95496200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:95483800-95491800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:95483800-95496600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:95483800-95496800	Weak transcription	Gastric	stomach
14	chr4:95483800-95497000	Weak transcription	HMEC	breast
15	chr4:95484000-95495600	Weak transcription	NH-A	brain
16	chr4:95484000-95496600	Weak transcription	HSMMtube	muscle
17	chr4:95484000-95507400	Weak transcription	Hela-S3	cervix
18	chr4:95484600-95496800	Weak transcription	HSMM	muscle
19	chr4:95485600-95496600	Weak transcription	Ovary	ovary
20	chr4:95485800-95495200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:95485800-95496800	Weak transcription	Psoas Muscle	Psoas
22	chr4:95485800-95496800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:95486000-95496800	Weak transcription	Aorta	Aorta
24	chr4:95486200-95495000	Weak transcription	Placenta	Placenta
25	chr4:95486200-95495200	Weak transcription	Left Ventricle	heart
26	chr4:95486400-95493200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr4:95486800-95496600	Weak transcription	Right Ventricle	heart
28	chr4:95487000-95495200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:95487000-95496600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:95488000-95491800	Weak transcription	HepG2	liver
31	chr4:95489000-95491600	Weak transcription	HUVEC	blood vessel
32	chr4:95489000-95492200	Weak transcription	Brain Hippocampus Middle	brain
33	chr4:95489000-95496800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr4:95489000-95507400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr4:95489200-95496800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr4:95489200-95506800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:95489200-95507400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:95489200-95509800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr4:95489400-95491600	Weak transcription	Colon Smooth Muscle	Colon
40	chr4:95489400-95491600	Weak transcription	Fetal Heart	heart
41	chr4:95489400-95491600	Weak transcription	Stomach Mucosa	stomach
42	chr4:95489400-95491600	Weak transcription	A549	lung
43	chr4:95489400-95492600	Weak transcription	Small Intestine	intestine
44	chr4:95489400-95493000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr4:95489400-95496600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr4:95489400-95496600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr4:95489400-95496800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:95489400-95496800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr4:95489400-95496800	Weak transcription	Adipose Nuclei	Adipose
50	chr4:95489400-95496800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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