Variant report

Variant	rs35111158
Chromosome Location	chr7:66409881-66409882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11763269	0.83[LWK][hapmap]
rs12698551	0.99[ASN][1000 genomes]
rs13228779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13229468	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13232393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13233569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13235282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13236129	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs13237544	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs13238478	1.00[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];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13238612	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13246227	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1573944	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1880644	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2141924	0.90[AFR][1000 genomes]
rs2178742	0.90[AFR][1000 genomes]
rs34162778	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs34314366	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34423980	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34559676	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs34785430	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34816289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35043782	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35315599	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs35390465	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35481333	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs35508430	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35624856	0.87[ASN][1000 genomes]
rs35676956	0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs35821254	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35851021	0.87[ASN][1000 genomes]
rs35876551	0.96[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs36059333	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4457208	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55849324	0.90[ASN][1000 genomes]
rs55889925	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56006261	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56235846	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56675463	0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs59308022	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs60201031	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66510832	0.82[ASN][1000 genomes]
rs67319329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71535634	0.84[ASN][1000 genomes]
rs71535635	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs71563136	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs869249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs876743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv436556	chr7:66403338-66410081	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs35111158	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs35111158	GUSB	cis	Whole Blood	GTEx
rs35111158	VKORC1L1	Cis_1M	lymphoblastoid	RTeQTL
rs35111158	VKORC1L1	cis	parietal	SCAN
rs35111158	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs35111158	ASL	cis	multi-tissue	Pritchard
rs35111158	RP4-756H11.3	cis	lung	GTEx
rs35111158	ZNF117	cis	parietal	SCAN
rs35111158	ZNF117	cis	cerebellum	SCAN
rs35111158	CRCP	cis	cerebellum	SCAN
rs35111158	ZNF273	cis	parietal	SCAN
rs35111158	CRCP	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66387600-66428000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:66393400-66411800	Weak transcription	Stomach Mucosa	stomach
3	chr7:66393800-66422200	Weak transcription	Fetal Heart	heart
4	chr7:66395800-66412800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:66396000-66415800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:66398400-66410000	Weak transcription	Right Ventricle	heart
7	chr7:66398800-66410000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:66398800-66415400	Weak transcription	Brain Angular Gyrus	brain
9	chr7:66400600-66426400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:66402400-66424200	Strong transcription	Dnd41	blood
11	chr7:66402600-66414000	Strong transcription	Primary T cells from cord blood	blood
12	chr7:66403000-66424800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:66403400-66417000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:66403400-66417200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:66403400-66424400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr7:66403400-66426000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr7:66403400-66426400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:66403600-66411400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:66403600-66411400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr7:66403600-66417200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:66403600-66424600	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr7:66403600-66425600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr7:66403600-66426400	Strong transcription	Thymus	Thymus
24	chr7:66403600-66426600	Strong transcription	Fetal Stomach	stomach
25	chr7:66403800-66417200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr7:66403800-66418800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:66403800-66425200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr7:66403800-66425800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr7:66404000-66414000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:66404000-66414000	Strong transcription	K562	blood
31	chr7:66404000-66417400	Strong transcription	Lung	lung
32	chr7:66405000-66424600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:66405200-66422800	Strong transcription	Fetal Muscle Leg	muscle
34	chr7:66405400-66410600	Strong transcription	Primary hematopoietic stem cells	blood
35	chr7:66405400-66412800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr7:66405400-66417400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:66406000-66426400	Strong transcription	Fetal Thymus	thymus
38	chr7:66406200-66421400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:66406200-66423800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:66406400-66410600	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:66406400-66410600	Strong transcription	HSMMtube	muscle
42	chr7:66406400-66412000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:66406400-66412200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:66406400-66413400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:66406400-66417200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:66406400-66424400	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:66406400-66425000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:66406600-66410600	Strong transcription	HSMM	muscle
49	chr7:66406600-66410600	Strong transcription	Osteobl	bone
50	chr7:66406600-66410800	Strong transcription	Fetal Intestine Large	intestine

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