Variant report

Variant	rs2694576
Chromosome Location	chr7:128884287-128884288
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	chr7:128863037..128866889-chr7:128882617..128886190,4	MCF-7	breast:
2	chr7:128873646..128876213-chr7:128883173..128885864,2	K562	blood:

Variant related genes	Relation type
ENSG00000158467	Chromatin interaction

Extended variants
information (count: 43 )
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	0.85[LWK][hapmap];0.95[MKK][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs12533108	1.00[EUR][1000 genomes]
rs13240723	1.00[YRI][hapmap];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	0.87[YRI][hapmap];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	0.85[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.87[YRI][hapmap];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[MEX][hapmap];0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs2566882	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];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]
rs2694577	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694583	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs2694591	0.85[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs2718085	1.00[EUR][1000 genomes]
rs2718090	0.85[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs2718091	0.85[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs2718092	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718097	0.87[YRI][hapmap];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]
rs4731567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6467234	0.82[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs6467236	1.00[EUR][1000 genomes]
rs6467239	0.82[AFR][1000 genomes]
rs6949882	1.00[EUR][1000 genomes]
rs6950279	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs9641847	1.00[EUR][1000 genomes]
rs9641848	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

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	chr7:128866400-128891400	Weak transcription	Fetal Stomach	stomach
4	chr7:128866400-128899000	Weak transcription	Ovary	ovary
5	chr7:128866600-128901400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:128866800-128889600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr7:128867000-128898400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr7:128867200-128909800	Weak transcription	Primary B cells from cord blood	blood
9	chr7:128867600-128885600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:128868600-128897200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:128872800-128892000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:128876400-128889800	Weak transcription	Fetal Intestine Small	intestine
13	chr7:128878800-128897000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:128880400-128889800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:128880600-128887000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:128881000-128884400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:128881000-128892000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:128881000-128898800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:128882000-128899600	Weak transcription	Left Ventricle	heart
20	chr7:128882200-128888000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:128883800-128884400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:128884000-128884400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:128884200-128884400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr7:128884200-128884400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:128884200-128884400	Enhancers	HepG2	liver
26	chr7:128884200-128884800	ZNF genes & repeats	Primary T cells from cord blood	blood

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