Variant report

Variant	rs8076462
Chromosome Location	chr17:37400025-37400026
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37392376..37395976-chr17:37399419..37404375,4	K562	blood:
2	chr17:37399360..37401655-chr17:37617995..37620888,2	K562	blood:
3	chr17:37393657..37395976-chr17:37399419..37401926,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPL19-3	chr17:37399630-37400263	NONHSAT053433

Variant related genes	Relation type
ENSG00000265460	Chromatin interaction
ENSG00000167258	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10445306	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10491128	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10491129	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11078893	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11078894	0.88[CHB][hapmap]
rs11078895	0.88[CHB][hapmap]
rs11078897	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs11078898	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12452509	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12452880	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12600751	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12950186	0.87[CHB][hapmap]
rs13341996	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2061338	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs2302073	0.88[CHB][hapmap]
rs2338755	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs2338799	0.87[CHB][hapmap]
rs2338800	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2879258	0.88[CHB][hapmap]
rs3744348	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3744349	0.82[CHB][hapmap]
rs3964723	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4511574	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4516267	0.88[CHB][hapmap]
rs4795355	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4795356	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4795357	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4795358	0.82[CHB][hapmap]
rs582176	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs584377	0.82[CHB][hapmap]
rs585961	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs588193	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs590051	0.88[CHB][hapmap]
rs593480	0.92[CHB][hapmap];0.86[YRI][hapmap]
rs597069	0.87[CHB][hapmap]
rs600010	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs602688	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs620686	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs632202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs634365	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs644173	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs649180	0.88[CHB][hapmap]
rs650106	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs6503500	0.88[CHB][hapmap]
rs6503503	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6503504	0.82[CHB][hapmap]
rs6503507	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6503513	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs667239	0.81[CHB][hapmap]
rs676882	0.82[CHB][hapmap]
rs7208487	0.82[CHB][hapmap]
rs7212621	0.82[CHB][hapmap]
rs7220650	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7221875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7222252	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7223438	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7501488	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs752314	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs755500	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs801418	0.88[CHB][hapmap]
rs801426	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[YRI][hapmap]
rs801427	0.81[CHB][hapmap]
rs8066704	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8069451	0.90[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs8070695	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs8073907	0.88[CHB][hapmap]
rs8076494	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8076546	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs8079590	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs9646419	0.82[CHB][hapmap]
rs9892055	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9893735	0.88[CHB][hapmap]
rs9894586	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9904334	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs9904919	0.95[CEU][hapmap]
rs9906612	0.82[CHB][hapmap]
rs9908131	0.82[CHB][hapmap]
rs9944411	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057470	chr17:37135183-37549816	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv543339	chr17:37135183-37549816	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
4	nsv833441	chr17:37320807-37476796	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv908203	chr17:37327165-37405657	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv1061084	chr17:37333956-37501598	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
9	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
10	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
11	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
12	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8076462	CRKRS	Cis_1M	lymphoblastoid	RTeQTL
rs8076462	PGAP3	cis	Heart Left Ventricle	GTEx

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37394600-37401000	Weak transcription	Fetal Lung	lung
2	chr17:37395000-37400400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr17:37395000-37413000	Weak transcription	HSMMtube	muscle
4	chr17:37395000-37414600	Weak transcription	Psoas Muscle	Psoas
5	chr17:37395200-37400200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr17:37395200-37400400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr17:37395200-37400400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr17:37395200-37400400	Weak transcription	NHDF-Ad	bronchial
9	chr17:37395200-37409000	Weak transcription	Brain Anterior Caudate	brain
10	chr17:37395200-37409200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:37395200-37417000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr17:37395400-37400400	Weak transcription	HSMM	muscle
13	chr17:37395400-37400800	Weak transcription	HMEC	breast
14	chr17:37395800-37403800	Weak transcription	A549	lung
15	chr17:37396000-37400800	Weak transcription	Hela-S3	cervix
16	chr17:37396000-37400800	Weak transcription	K562	blood
17	chr17:37396000-37409200	Weak transcription	Pancreas	Pancrea
18	chr17:37396200-37400400	Weak transcription	Right Ventricle	heart
19	chr17:37396200-37400800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr17:37396200-37406000	Weak transcription	Right Atrium	heart
21	chr17:37396400-37400200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr17:37396400-37400200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr17:37396400-37400200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr17:37396400-37400200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr17:37396400-37400200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr17:37396400-37400200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr17:37396400-37400200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr17:37396400-37400200	Weak transcription	Fetal Thymus	thymus
29	chr17:37396400-37400200	Weak transcription	GM12878-XiMat	blood
30	chr17:37396400-37400400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr17:37396400-37400400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr17:37396400-37400400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr17:37396400-37400400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr17:37396400-37400400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr17:37396400-37400400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr17:37396400-37400400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr17:37396400-37400400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr17:37396400-37400400	Weak transcription	Spleen	Spleen
39	chr17:37396400-37400600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr17:37396400-37400600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr17:37396400-37400800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr17:37396400-37401000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr17:37396400-37404600	Weak transcription	Thymus	Thymus
44	chr17:37396400-37410200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr17:37396400-37416400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr17:37396600-37400200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr17:37396600-37400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr17:37396600-37400200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr17:37396600-37400400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr17:37397600-37400400	Weak transcription	Primary T cells from cord blood	blood

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