Variant report

Variant	rs2198144
Chromosome Location	chr7:50574254-50574255
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50570130..50572623-chr7:50573822..50576522,2	K562	blood:
2	chr7:50518383..50520516-chr7:50572098..50575046,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10244632	0.94[CHB][hapmap]
rs10249982	0.93[CHB][hapmap]
rs1037351	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs11575375	0.93[EUR][1000 genomes]
rs12535064	0.93[CHB][hapmap]
rs12538830	0.93[CHB][hapmap]
rs1817074	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982406	0.93[CHB][hapmap]
rs2100280	1.00[CHB][hapmap]
rs2167364	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs3735274	0.93[CHB][hapmap]
rs4585697	0.86[CHB][hapmap]
rs4947584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58612109	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592961	0.93[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6592963	1.00[CHB][hapmap]
rs7808025	0.93[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs7809758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9918702	0.93[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50543600-50595000	Weak transcription	Liver	Liver
2	chr7:50560800-50581000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:50565200-50609000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:50566200-50576000	Weak transcription	Colonic Mucosa	Colon
5	chr7:50566200-50581200	Strong transcription	Fetal Intestine Small	intestine
6	chr7:50568200-50574400	Enhancers	Fetal Muscle Leg	muscle
7	chr7:50569000-50592800	Weak transcription	HepG2	liver
8	chr7:50570800-50576200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:50571000-50576000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:50571000-50580200	Weak transcription	Pancreas	Pancrea
11	chr7:50571000-50582400	Weak transcription	Right Atrium	heart
12	chr7:50571200-50576000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr7:50571800-50576200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:50572400-50574400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:50572400-50577000	Strong transcription	Duodenum Mucosa	Duodenum
16	chr7:50572600-50574600	Enhancers	Psoas Muscle	Psoas
17	chr7:50572600-50575400	Weak transcription	Fetal Intestine Large	intestine
18	chr7:50572800-50574400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:50572800-50574600	Enhancers	Fetal Thymus	thymus
20	chr7:50573000-50574800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr7:50573000-50575600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:50573000-50577000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:50573200-50574400	Enhancers	Primary hematopoietic stem cells	blood
24	chr7:50573800-50575600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr7:50574000-50575800	Weak transcription	Thymus	Thymus

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