Variant report

Variant	rs4667105
Chromosome Location	chr2:187405576-187405577
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187398946..187400770-chr2:187402643..187405986,3	K562	blood:
2	chr2:187405383..187412410-chr2:187452886..187457882,13	MCF-7	breast:
3	chr2:187398977..187400770-chr2:187403878..187405986,2	K562	blood:
4	chr2:187362564..187365025-chr2:187405176..187407721,2	K562	blood:
5	chr2:187402678..187406003-chr2:187406962..187409944,3	K562	blood:

Variant related genes	Relation type
ENSG00000138448	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10931250	0.85[AFR][1000 genomes]
rs10931251	1.00[AFR][1000 genomes]
rs11888813	0.95[AFR][1000 genomes]
rs1376782	1.00[AFR][1000 genomes]
rs1448425	0.95[AFR][1000 genomes]
rs1451876	1.00[AFR][1000 genomes]
rs1530312	0.95[AFR][1000 genomes]
rs1597186	0.95[AFR][1000 genomes]
rs1968563	0.95[AFR][1000 genomes]
rs2119862	0.95[AFR][1000 genomes]
rs6434186	1.00[AFR][1000 genomes]
rs6733148	1.00[YRI][hapmap]
rs6735503	1.00[AFR][1000 genomes]
rs6739787	1.00[AFR][1000 genomes]
rs7577982	1.00[YRI][hapmap]
rs7584678	1.00[AFR][1000 genomes]
rs921503	1.00[AFR][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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv459988	chr2:187364878-187440683	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv584031	chr2:187364878-187440683	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1004309	chr2:187389880-187455946	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv536082	chr2:187389880-187455946	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv875552	chr2:187393729-187505486	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv3394111	chr2:187405517-187405827	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187363000-187408800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:187367200-187405800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:187371000-187407800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:187381800-187406600	Weak transcription	NHEK	skin
5	chr2:187386200-187408000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:187399400-187408200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:187404200-187405600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:187404200-187406400	Weak transcription	HUVEC	blood vessel
9	chr2:187405000-187405600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:187405200-187405600	Enhancers	NHDF-Ad	bronchial
11	chr2:187405200-187406000	Enhancers	HepG2	liver
12	chr2:187405200-187406400	Enhancers	HSMM	muscle
13	chr2:187405200-187406800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:187405200-187407000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:187405200-187407200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:187405200-187407200	Enhancers	A549	lung
17	chr2:187405200-187407800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:187405200-187411800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:187405400-187406200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:187405400-187406400	Enhancers	HSMMtube	muscle
21	chr2:187405400-187406800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:187405400-187407000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:187405400-187407000	Enhancers	HUES48 Cell Line	embryonic stem cell

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