Variant report

Variant	rs1595414
Chromosome Location	chr2:20167688-20167689
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20165489..20167886-chr2:20346989..20349091,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10153717	0.97[LWK][hapmap];1.00[MKK][hapmap];0.90[AFR][1000 genomes]
rs10165128	0.89[ASN][1000 genomes]
rs10178256	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10187524	0.83[ASN][1000 genomes]
rs10190308	0.95[CHB][hapmap];0.89[ASN][1000 genomes]
rs10191437	0.86[ASN][1000 genomes]
rs10197369	0.95[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs10495700	0.90[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.81[TSI][hapmap];0.90[ASN][1000 genomes]
rs11096633	0.84[CHD][hapmap]
rs1115274	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1191778	0.81[TSI][hapmap]
rs12477955	0.83[ASN][1000 genomes]
rs12478934	0.80[ASN][1000 genomes]
rs12612708	0.95[CHB][hapmap];0.90[ASN][1000 genomes]
rs12616917	0.90[ASN][1000 genomes]
rs1437859	0.89[ASN][1000 genomes]
rs1595415	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1824661	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1837133	0.90[YRI][hapmap]
rs1947730	0.95[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.89[ASN][1000 genomes]
rs2028207	0.89[AFR][1000 genomes]
rs2045779	0.95[CHB][hapmap];0.83[GIH][hapmap];0.90[ASN][1000 genomes]
rs2118444	0.91[AFR][1000 genomes]
rs28401180	0.82[ASN][1000 genomes]
rs28598872	0.82[ASN][1000 genomes]
rs3731663	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3820949	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs6736663	0.85[ASN][1000 genomes]
rs6741091	0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.83[TSI][hapmap];0.86[ASN][1000 genomes]
rs7569975	0.97[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.80[TSI][hapmap];0.83[ASN][1000 genomes]
rs7572536	0.95[CHB][hapmap];0.90[ASN][1000 genomes]
rs7575732	0.95[CHB][hapmap];0.90[ASN][1000 genomes]
rs7584726	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs7604699	0.95[CHB][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798392	chr2:20131079-20173255	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1006404	chr2:20167688-20216509	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1595414	LOC130502	cis	multi-tissue	Pritchard
rs1595414	WDR35	cis	parietal	SCAN

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20102800-20173200	Weak transcription	Fetal Brain Male	brain
2	chr2:20117600-20188400	Weak transcription	Brain Angular Gyrus	brain
3	chr2:20127400-20167800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:20128400-20188400	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:20128400-20189200	Weak transcription	Small Intestine	intestine
6	chr2:20129400-20184800	Weak transcription	Esophagus	oesophagus
7	chr2:20129600-20189000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:20130200-20189000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:20130400-20188800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:20130600-20188800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:20131800-20189000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:20133600-20184800	Weak transcription	Psoas Muscle	Psoas
13	chr2:20133800-20173200	Weak transcription	NHEK	skin
14	chr2:20133800-20176800	Weak transcription	HMEC	breast
15	chr2:20134200-20168600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:20136400-20177000	Weak transcription	GM12878-XiMat	blood
17	chr2:20136400-20177200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:20136600-20171200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr2:20136600-20177200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:20136800-20171400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:20136800-20188800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:20136800-20189000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:20138000-20177000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:20138200-20171400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:20138200-20188800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr2:20138400-20167800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:20138600-20184800	Weak transcription	Aorta	Aorta
28	chr2:20144600-20173200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:20144600-20173400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:20144600-20173600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:20144800-20168600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:20145000-20168600	Weak transcription	Primary B cells from cord blood	blood
33	chr2:20145000-20176800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:20145200-20188000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:20146000-20173200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:20147600-20171000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:20148400-20174600	Weak transcription	NH-A	brain
38	chr2:20149600-20171000	Weak transcription	HUVEC	blood vessel
39	chr2:20149600-20174800	Weak transcription	NHDF-Ad	bronchial
40	chr2:20150800-20171000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:20152400-20173200	Weak transcription	Brain Anterior Caudate	brain
42	chr2:20152400-20173200	Weak transcription	HSMM	muscle
43	chr2:20153000-20168400	Weak transcription	Hela-S3	cervix
44	chr2:20153200-20177400	Weak transcription	Brain Germinal Matrix	brain
45	chr2:20153200-20184400	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:20156000-20171000	Weak transcription	Fetal Intestine Large	intestine
47	chr2:20156200-20174800	Weak transcription	Liver	Liver
48	chr2:20157800-20187200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:20159600-20173200	Weak transcription	Pancreas	Pancrea
50	chr2:20160600-20181200	Strong transcription	A549	lung

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