Variant report

Variant	rs4731567
Chromosome Location	chr7:128892439-128892440
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	chr7:128891593..128894019-chr7:128897274..128899185,2	K562	blood:
2	chr7:128890270..128893260-chr7:128905133..128906966,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10215998	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10235589	1.00[EUR][1000 genomes]
rs10249336	0.82[AFR][1000 genomes]
rs10269495	1.00[EUR][1000 genomes]
rs10281269	1.00[EUR][1000 genomes]
rs12533108	1.00[EUR][1000 genomes]
rs13240723	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1405475	1.00[EUR][1000 genomes]
rs1469554	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1526898	1.00[EUR][1000 genomes]
rs1526899	1.00[EUR][1000 genomes]
rs1549788	1.00[EUR][1000 genomes]
rs1609043	1.00[EUR][1000 genomes]
rs1991645	1.00[EUR][1000 genomes]
rs2402946	1.00[EUR][1000 genomes]
rs2402947	1.00[EUR][1000 genomes]
rs2463096	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2566875	1.00[EUR][1000 genomes]
rs2566881	1.00[EUR][1000 genomes]
rs2566882	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694570	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2694575	1.00[EUR][1000 genomes]
rs2694576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694577	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694583	1.00[EUR][1000 genomes]
rs2694591	1.00[EUR][1000 genomes]
rs2718085	1.00[EUR][1000 genomes]
rs2718090	1.00[EUR][1000 genomes]
rs2718091	1.00[EUR][1000 genomes]
rs2718092	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718097	1.00[EUR][1000 genomes]
rs2718099	0.94[AFR][1000 genomes]
rs2718100	1.00[EUR][1000 genomes]
rs28399138	1.00[EUR][1000 genomes]
rs28864519	1.00[EUR][1000 genomes]
rs6467234	1.00[EUR][1000 genomes]
rs6467236	1.00[EUR][1000 genomes]
rs6467239	0.82[AFR][1000 genomes]
rs6949882	1.00[EUR][1000 genomes]
rs6950279	1.00[EUR][1000 genomes]
rs9641847	1.00[EUR][1000 genomes]
rs9641848	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031284	chr7:128866118-128910506	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3349195	chr7:128887559-128918489	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525482	chr7:128890812-129045191	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128866000-128902200	Weak transcription	Gastric	stomach
2	chr7:128866200-128898600	Weak transcription	Thymus	Thymus
3	chr7:128866400-128899000	Weak transcription	Ovary	ovary
4	chr7:128866600-128901400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:128867000-128898400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr7:128867200-128909800	Weak transcription	Primary B cells from cord blood	blood
7	chr7:128868600-128897200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:128878800-128897000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr7:128881000-128898800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:128882000-128899600	Weak transcription	Left Ventricle	heart
11	chr7:128884800-128898800	Weak transcription	Primary T cells from cord blood	blood
12	chr7:128885600-128898600	Weak transcription	Brain Germinal Matrix	brain
13	chr7:128887200-128898600	Weak transcription	NHEK	skin
14	chr7:128888200-128895800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:128890200-128895800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:128890800-128892800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr7:128890800-128897200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:128891200-128897000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:128891800-128892600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:128891800-128892600	Enhancers	Fetal Lung	lung
21	chr7:128892000-128892600	Enhancers	Fetal Stomach	stomach
22	chr7:128892000-128892600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr7:128892000-128892600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr7:128892400-128893200	Enhancers	Psoas Muscle	Psoas
25	chr7:128892400-128897200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:128892400-128898600	Weak transcription	Brain Anterior Caudate	brain

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