Variant report

Variant	rs10135643
Chromosome Location	chr14:69517406-69517407
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69509516..69511867-chr14:69516785..69518718,2	K562	blood:
2	chr14:69510523..69515043-chr14:69515218..69517910,6	MCF-7	breast:
3	chr14:69510349..69511857-chr14:69516882..69518965,2	K562	blood:
4	chr14:69516593..69518334-chr14:69522409..69523949,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1007407	1.00[JPT][hapmap]
rs10083451	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap]
rs10130013	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10131077	0.81[ASN][1000 genomes]
rs10132533	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs10134578	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10135127	0.82[EUR][1000 genomes]
rs10135971	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10139873	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap]
rs10141040	0.81[ASN][1000 genomes]
rs10143302	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10145565	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10146339	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10146649	0.84[EUR][1000 genomes]
rs10147369	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.81[ASN][1000 genomes]
rs10148614	1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10149232	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10151376	0.81[EUR][1000 genomes]
rs11158780	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11158782	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11158787	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11158790	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap]
rs11158795	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs11158798	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs1147481	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11622889	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.81[ASN][1000 genomes]
rs11628126	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12323738	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12431846	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12434775	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12435594	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12589028	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1275407	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap]
rs1275415	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12879406	0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12881049	0.82[EUR][1000 genomes]
rs12885977	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12886715	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs12889849	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12891103	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1892296	0.83[EUR][1000 genomes]
rs1892297	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1914004	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1973677	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2001998	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2012764	1.00[JPT][hapmap]
rs2056153	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.85[ASN][1000 genomes]
rs2300875	1.00[JPT][hapmap]
rs2331918	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs2331919	0.82[ASN][1000 genomes]
rs28613298	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap]
rs3211166	0.89[CHB][hapmap]
rs35538328	0.80[AMR][1000 genomes]
rs4338726	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4899280	0.88[CEU][hapmap];0.89[GIH][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6573869	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7148045	1.00[JPT][hapmap]
rs7160629	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8008184	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8017103	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9323522	0.85[ASN][1000 genomes]
rs9323524	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap]

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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10135643	WDR22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69508800-69518000	Enhancers	Fetal Muscle Leg	muscle
2	chr14:69509800-69517800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:69509800-69519000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:69510400-69518800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:69510600-69517800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr14:69510800-69518200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:69511000-69519200	Weak transcription	NHEK	skin
8	chr14:69511400-69519000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr14:69512400-69519800	Weak transcription	Brain Germinal Matrix	brain
10	chr14:69513000-69518800	Weak transcription	Fetal Brain Female	brain
11	chr14:69513000-69518800	Weak transcription	Pancreas	Pancrea
12	chr14:69513200-69519200	Weak transcription	Thymus	Thymus
13	chr14:69513200-69521600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:69513400-69518600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:69513400-69519000	Enhancers	Stomach Smooth Muscle	stomach
16	chr14:69513400-69519200	Weak transcription	Fetal Thymus	thymus
17	chr14:69513400-69520800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:69513800-69518000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr14:69513800-69518800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr14:69513800-69518800	Weak transcription	Gastric	stomach
21	chr14:69513800-69519400	Weak transcription	Esophagus	oesophagus
22	chr14:69513800-69519600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr14:69513800-69520800	Weak transcription	Colonic Mucosa	Colon
24	chr14:69513800-69521400	Weak transcription	Small Intestine	intestine
25	chr14:69514000-69518800	Weak transcription	Fetal Stomach	stomach
26	chr14:69514000-69519000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr14:69514000-69520000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:69514000-69520000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr14:69514600-69519200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:69515000-69518400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr14:69515000-69519000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr14:69515200-69518400	Enhancers	Hela-S3	cervix
33	chr14:69515200-69519600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr14:69515400-69518000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr14:69515400-69518200	Enhancers	Fetal Intestine Small	intestine
36	chr14:69515600-69517800	Enhancers	Colon Smooth Muscle	Colon
37	chr14:69515600-69518800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:69515600-69518800	Weak transcription	Fetal Heart	heart
39	chr14:69515600-69519200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr14:69515600-69520000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr14:69515800-69518800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr14:69515800-69519600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr14:69515800-69520200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:69515800-69520200	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr14:69516000-69519000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:69516000-69519200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:69516000-69519400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:69516000-69519600	Enhancers	Fetal Intestine Large	intestine
49	chr14:69516000-69520800	Enhancers	Ovary	ovary
50	chr14:69516200-69517600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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