Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:84701446..84703629-chr1:84722658..84725060,2	MCF-7	breast:
2	chr1:84720921..84723664-chr1:84724044..84726966,2	K562	blood:
3	chr1:84718460..84721280-chr1:84722520..84725212,2	MCF-7	breast:
4	chr1:84717533..84719612-chr1:84721999..84724485,2	K562	blood:

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1027694	0.89[CEU][hapmap]
rs1085727	0.86[ASN][1000 genomes]
rs11163930	0.96[ASN][1000 genomes]
rs12411158	0.86[ASN][1000 genomes]
rs1402695	1.00[ASN][1000 genomes]
rs1402697	0.92[ASN][1000 genomes]
rs2389717	0.89[CEU][hapmap]
rs316630	0.90[ASN][1000 genomes]
rs4907050	0.90[ASN][1000 genomes]
rs589918	0.81[ASN][1000 genomes]
rs600674	0.89[CEU][hapmap]
rs634904	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs657321	0.90[ASN][1000 genomes]
rs7526798	0.82[ASN][1000 genomes]
rs7549996	0.82[ASN][1000 genomes]
rs787858	0.95[CHB][hapmap];0.86[GIH][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830414	chr1:84636738-84824651	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs677124	PRKACB	cis	lymphoblastoid	seeQTL
rs677124	CLCA1	cis	cerebellum	SCAN
rs677124	DNASE2B	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84714000-84726000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:84718200-84723400	Enhancers	Brain Substantia Nigra	brain
3	chr1:84720000-84725600	Weak transcription	Pancreas	Pancrea
4	chr1:84720200-84723400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:84720600-84727400	Weak transcription	Aorta	Aorta
6	chr1:84721000-84723200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:84721200-84723200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:84721400-84725400	Weak transcription	A549	lung
9	chr1:84721600-84726000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:84721600-84728200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:84722200-84723800	Enhancers	Gastric	stomach
12	chr1:84722400-84723600	Enhancers	Stomach Mucosa	stomach
13	chr1:84722400-84723800	Enhancers	Brain Hippocampus Middle	brain
14	chr1:84722600-84723800	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:84722600-84723800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr1:84723000-84723600	Enhancers	Brain Angular Gyrus	brain
17	chr1:84723000-84723800	Enhancers	Brain Anterior Caudate	brain
18	chr1:84723000-84723800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:84723000-84724800	Enhancers	Stomach Smooth Muscle	stomach
20	chr1:84723000-84725400	Enhancers	Fetal Thymus	thymus

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