Variant report

Variant	rs7587143
Chromosome Location	chr2:47743427-47743428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47738927..47740595-chr2:47742271..47744038,2	K562	blood:
2	chr2:47742968..47745561-chr2:47746454..47749350,4	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11125141	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11675417	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11677098	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11891189	0.89[ASN][1000 genomes]
rs12619323	0.91[ASN][1000 genomes]
rs13009248	0.88[ASN][1000 genomes]
rs13031209	0.84[ASN][1000 genomes]
rs17036639	0.83[ASN][1000 genomes]
rs6544993	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv998314	chr2:47720420-47959168	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv817599	chr2:47738456-47961099	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47732600-47747800	Weak transcription	Primary T cells from cord blood	blood
2	chr2:47734000-47747000	Weak transcription	Brain Anterior Caudate	brain
3	chr2:47734000-47747600	Weak transcription	Brain Substantia Nigra	brain
4	chr2:47736800-47747400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:47736800-47747400	Weak transcription	Thymus	Thymus
6	chr2:47737000-47747200	Weak transcription	GM12878-XiMat	blood
7	chr2:47737200-47744400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:47737200-47744800	Weak transcription	Fetal Thymus	thymus
9	chr2:47738200-47744800	Weak transcription	Ovary	ovary
10	chr2:47738400-47743600	Weak transcription	Fetal Brain Female	brain
11	chr2:47738400-47747200	Weak transcription	Brain Germinal Matrix	brain
12	chr2:47739200-47747600	Weak transcription	Pancreas	Pancrea
13	chr2:47740000-47747200	Weak transcription	Spleen	Spleen
14	chr2:47740200-47745200	Weak transcription	Dnd41	blood
15	chr2:47740400-47746600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr2:47741200-47747400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:47741400-47744200	Enhancers	Brain Hippocampus Middle	brain
18	chr2:47741400-47744800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:47741600-47747400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:47741800-47745800	Weak transcription	Fetal Intestine Small	intestine
21	chr2:47742400-47747000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:47742600-47747000	Weak transcription	Brain Angular Gyrus	brain
23	chr2:47742800-47743600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr2:47742800-47745000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:47742800-47748400	Enhancers	Fetal Brain Male	brain
26	chr2:47743000-47743600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:47743000-47744600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:47743000-47744800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:47743000-47745000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:47743000-47745000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:47743000-47745400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:47743200-47744200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr2:47743200-47744600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr2:47743200-47744600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:47743200-47744600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr2:47743200-47744600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr2:47743400-47743800	Enhancers	Brain Cingulate Gyrus	brain
38	chr2:47743400-47744400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:47743400-47744600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr2:47743400-47745000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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