Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173768702..173770675-chr2:173794651..173796590,2	MCF-7	breast:
2	chr2:173764454..173767281-chr2:173769134..173770685,2	K562	blood:

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

rs_ID	r²[population]
rs3754760	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3754762	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3754763	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3769265	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769277	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769278	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769280	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769281	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769291	0.87[EUR][1000 genomes]
rs3769294	0.87[EUR][1000 genomes]
rs55759167	1.00[EUR][1000 genomes]
rs55923901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56884890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57440334	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59080171	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73977720	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73977722	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73977726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73977727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73977729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173759000-173770600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:173764400-173771200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:173764400-173792600	Weak transcription	Fetal Intestine Small	intestine
4	chr2:173764800-173776000	Weak transcription	Spleen	Spleen
5	chr2:173767000-173776600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:173769200-173771600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:173769200-173792400	Weak transcription	Fetal Kidney	kidney
8	chr2:173769800-173771000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:173769800-173771000	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:173769800-173771600	Enhancers	Fetal Heart	heart
11	chr2:173770000-173771000	Weak transcription	Lung	lung
12	chr2:173770000-173771000	Weak transcription	Right Atrium	heart
13	chr2:173770000-173771200	Weak transcription	Fetal Thymus	thymus
14	chr2:173770200-173770800	Weak transcription	Left Ventricle	heart
15	chr2:173770400-173770600	Bivalent Enhancer	Colonic Mucosa	Colon
16	chr2:173770400-173771400	Enhancers	Rectal Smooth Muscle	rectum
17	chr2:173770400-173771600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:173770400-173771600	Enhancers	Colon Smooth Muscle	Colon

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