Variant report

Variant	rs17170045
Chromosome Location	chr7:33051950-33051951
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:33048890..33051956-chr7:33060323..33062339,3	K562	blood:
2	chr7:33049778..33053350-chr7:33054534..33056757,3	K562	blood:

Variant related genes	Relation type
ENSG00000122643	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10486518	1.00[ASW][hapmap]
rs11974256	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[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16881929	1.00[ASW][hapmap]
rs17170172	1.00[AFR][1000 genomes];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];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17470945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17471162	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]
rs17471190	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17471313	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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4000127	0.91[AFR][1000 genomes];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];0.83[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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7797997	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv14217	chr7:32999213-33053044	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	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
rs17170045	CRYBB2	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33003800-33064200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:33012200-33056400	Weak transcription	Fetal Kidney	kidney
3	chr7:33012600-33077600	Weak transcription	Psoas Muscle	Psoas
4	chr7:33015200-33053200	Weak transcription	Brain Anterior Caudate	brain
5	chr7:33020400-33052800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:33024000-33064400	Weak transcription	Brain Angular Gyrus	brain
7	chr7:33026400-33052800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:33037800-33052200	Weak transcription	Fetal Brain Female	brain
9	chr7:33038200-33052800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:33038200-33055000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:33038200-33080800	Weak transcription	Fetal Brain Male	brain
12	chr7:33038600-33052000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:33038600-33053000	Weak transcription	HMEC	breast
14	chr7:33038800-33052800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:33038800-33052800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:33038800-33052800	Weak transcription	Colonic Mucosa	Colon
17	chr7:33038800-33053000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:33038800-33053000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:33038800-33054800	Weak transcription	NH-A	brain
20	chr7:33039000-33052200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr7:33039000-33052400	Weak transcription	NHLF	lung
22	chr7:33039000-33052600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:33039000-33053000	Weak transcription	NHDF-Ad	bronchial
24	chr7:33039200-33065000	Weak transcription	Brain Germinal Matrix	brain
25	chr7:33039400-33052000	Weak transcription	Fetal Heart	heart
26	chr7:33039400-33052000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:33039400-33052600	Weak transcription	Fetal Lung	lung
28	chr7:33039400-33052800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr7:33039400-33052800	Weak transcription	Stomach Mucosa	stomach
30	chr7:33039400-33053000	Weak transcription	HepG2	liver
31	chr7:33039600-33052800	Weak transcription	Brain Substantia Nigra	brain
32	chr7:33040000-33057000	Weak transcription	HUVEC	blood vessel
33	chr7:33042600-33083200	Weak transcription	Small Intestine	intestine
34	chr7:33042800-33052400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:33043000-33052000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr7:33043000-33052800	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:33044200-33052000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:33044200-33052200	Weak transcription	Placenta	Placenta
39	chr7:33044400-33052400	Weak transcription	Left Ventricle	heart
40	chr7:33044800-33052400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr7:33045200-33052000	Weak transcription	Adipose Nuclei	Adipose
42	chr7:33045200-33052000	Weak transcription	Liver	Liver
43	chr7:33045200-33052400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:33045200-33052400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:33045200-33052400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr7:33045200-33052400	Weak transcription	Fetal Muscle Leg	muscle
47	chr7:33045200-33052600	Weak transcription	Aorta	Aorta
48	chr7:33045200-33052600	Weak transcription	Gastric	stomach
49	chr7:33045200-33052600	Weak transcription	Pancreas	Pancrea
50	chr7:33045200-33052600	Weak transcription	Stomach Smooth Muscle	stomach

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