Variant report

Variant	rs17471162
Chromosome Location	chr7:33076183-33076184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10486518	1.00[ASW][hapmap]
rs11974256	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11982221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12375128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16881929	1.00[ASW][hapmap]
rs17170045	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17170172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17170223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17470945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17471190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17471313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2953602	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34974224	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4000127	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4612242	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4723239	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[EUR][1000 genomes]
rs60057476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462451	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72555719	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72555748	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7797997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	esv3478254	chr7:32956181-33133477	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv3478255	chr7:32956181-33133477	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv3528603	chr7:32956254-33133429	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3528604	chr7:32956254-33133429	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	esv3366191	chr7:32956659-33134592	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	esv3418466	chr7:32968130-33138898	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17471162	CRYBB2	trans	lymphoblastoid	seeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33012600-33077600	Weak transcription	Psoas Muscle	Psoas
2	chr7:33038200-33080800	Weak transcription	Fetal Brain Male	brain
3	chr7:33042600-33083200	Weak transcription	Small Intestine	intestine
4	chr7:33052400-33078200	Weak transcription	Fetal Heart	heart
5	chr7:33053400-33077600	Weak transcription	Brain Substantia Nigra	brain
6	chr7:33053800-33077400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:33055200-33078200	Weak transcription	NHEK	skin
8	chr7:33055200-33078400	Weak transcription	HMEC	breast
9	chr7:33055200-33083200	Weak transcription	Fetal Brain Female	brain
10	chr7:33056200-33080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:33056200-33083200	Weak transcription	Gastric	stomach
12	chr7:33056200-33083200	Weak transcription	Pancreas	Pancrea
13	chr7:33056800-33078800	Weak transcription	Fetal Kidney	kidney
14	chr7:33057400-33077400	Weak transcription	Brain Anterior Caudate	brain
15	chr7:33057600-33079200	Weak transcription	Placenta	Placenta
16	chr7:33057800-33078400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr7:33060600-33077400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:33060600-33078400	Weak transcription	Ovary	ovary
19	chr7:33061000-33077200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr7:33062400-33084000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:33062800-33079200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:33064200-33077400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr7:33064200-33078000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:33064400-33077200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:33064400-33077400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:33064600-33077200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:33065000-33077400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:33065600-33077800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:33065800-33077600	Weak transcription	Adipose Nuclei	Adipose
30	chr7:33065800-33077600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr7:33066000-33077400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr7:33066200-33101600	Weak transcription	Lung	lung
33	chr7:33066400-33078400	Weak transcription	Fetal Thymus	thymus
34	chr7:33066600-33079000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:33066800-33100800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:33067000-33077600	Weak transcription	Liver	Liver
37	chr7:33067000-33078200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:33067000-33078200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:33067000-33079000	Weak transcription	Fetal Muscle Leg	muscle
40	chr7:33067000-33079600	Weak transcription	Left Ventricle	heart
41	chr7:33068400-33077400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:33069200-33078400	Weak transcription	Fetal Lung	lung
43	chr7:33069600-33077400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:33069600-33077800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:33069600-33078400	Weak transcription	Aorta	Aorta
46	chr7:33069600-33083200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:33069800-33077800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:33069800-33078200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr7:33069800-33078600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr7:33069800-33078800	Weak transcription	Primary monocytes fromperipheralblood	blood

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