Variant report

Variant	rs4442997
Chromosome Location	chr2:151714861-151714862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:151713893..151716276-chr2:151721161..151722735,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12464150	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12472472	0.95[EUR][1000 genomes]
rs12472499	0.98[EUR][1000 genomes]
rs12476555	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12615469	0.92[ASN][1000 genomes]
rs12615517	0.84[ASN][1000 genomes]
rs12617580	0.84[ASN][1000 genomes]
rs12618241	0.84[ASN][1000 genomes]
rs12618601	0.84[ASN][1000 genomes]
rs12618883	0.84[ASN][1000 genomes]
rs12619973	0.86[ASN][1000 genomes]
rs12620092	0.86[ASN][1000 genomes]
rs12620771	0.84[ASN][1000 genomes]
rs12620806	0.84[ASN][1000 genomes]
rs12620823	0.84[ASN][1000 genomes]
rs12620855	0.84[ASN][1000 genomes]
rs12623050	0.86[ASN][1000 genomes]
rs12991056	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190379	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35009647	0.84[ASN][1000 genomes]
rs58234421	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61279207	0.91[ASN][1000 genomes]
rs6433007	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717675	0.83[ASN][1000 genomes]
rs6755138	0.84[ASN][1000 genomes]
rs73967448	0.84[ASN][1000 genomes]
rs73967453	0.83[ASN][1000 genomes]
rs73967454	0.84[ASN][1000 genomes]
rs73967455	0.81[ASN][1000 genomes]
rs73967459	0.92[ASN][1000 genomes]
rs73967461	0.92[ASN][1000 genomes]
rs73967463	0.92[ASN][1000 genomes]
rs7567736	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7578824	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7579851	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587992	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs767118	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976722	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	esv2757836	chr2:151457277-151844210	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv2759096	chr2:151457277-151844210	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv2756950	chr2:151502539-151749973	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1010993	chr2:151535786-151742522	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv35134	chr2:151542492-151741492	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv875286	chr2:151685251-151731950	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv998945	chr2:151711411-151833317	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv525350	chr2:151711700-152044794	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151706600-151715800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:151710200-151722200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:151710600-151715000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:151713000-151716400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:151713400-151715800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:151713600-151715600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:151713600-151715800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:151714000-151715600	Weak transcription	NHEK	skin
9	chr2:151714600-151715600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:151714800-151715200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:151714800-151715200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:151714800-151715200	Enhancers	Fetal Stomach	stomach
13	chr2:151714800-151717200	Enhancers	Cortex derived primary cultured neurospheres	brain

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