Variant report

Variant	rs1402696
Chromosome Location	chr1:84722594-84722595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1027694	1.00[CHB][hapmap]
rs11163930	0.81[EUR][1000 genomes]
rs11163932	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1402695	0.81[EUR][1000 genomes]
rs1402697	0.81[EUR][1000 genomes]
rs1494312	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1521520	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2389717	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.92[ASN][1000 genomes]
rs316628	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs316630	0.81[EUR][1000 genomes]
rs4906988	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4907047	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4907049	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4907051	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs583720	0.98[ASN][1000 genomes]
rs600674	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.92[ASN][1000 genomes]
rs600902	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs612848	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs615468	0.96[ASN][1000 genomes]
rs615726	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs632802	0.93[ASN][1000 genomes]
rs655977	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs657321	0.81[EUR][1000 genomes]
rs6576697	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6703471	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs674494	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs787858	0.90[CEU][hapmap]

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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84705800-84723000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:84714000-84726000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:84718200-84723400	Enhancers	Brain Substantia Nigra	brain
4	chr1:84720000-84725600	Weak transcription	Pancreas	Pancrea
5	chr1:84720200-84723400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:84720600-84727400	Weak transcription	Aorta	Aorta
7	chr1:84721000-84723200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:84721200-84723200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:84721400-84723000	Weak transcription	Brain Anterior Caudate	brain
10	chr1:84721400-84723000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:84721400-84725400	Weak transcription	A549	lung
12	chr1:84721600-84722600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:84721600-84722600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:84721600-84723000	Weak transcription	Brain Angular Gyrus	brain
15	chr1:84721600-84726000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:84721600-84728200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:84722200-84723800	Enhancers	Gastric	stomach
18	chr1:84722400-84723600	Enhancers	Stomach Mucosa	stomach
19	chr1:84722400-84723800	Enhancers	Brain Hippocampus Middle	brain

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