Variant report

Variant	rs718815
Chromosome Location	chr4:111024520-111024521
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	chr4:111022406..111024910-chr4:111113856..111116142,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10011926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10012789	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10012828	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10018930	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10032613	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10033229	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10034148	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1034668	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11937187	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13435887	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1468219	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1482469	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1964208	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1964209	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1964210	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1964211	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2057695	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2106995	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28730909	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3733623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4698810	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6850449	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs718816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7655273	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7655420	0.81[AMR][1000 genomes]
rs7668562	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7668795	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7669237	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7674189	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9992608	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:111004600-111026000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:111004600-111027800	Weak transcription	Esophagus	oesophagus
3	chr4:111006600-111026000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:111006800-111025800	Weak transcription	Liver	Liver
5	chr4:111008400-111026000	Weak transcription	Fetal Brain Female	brain
6	chr4:111010000-111027600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:111010000-111028000	Weak transcription	HepG2	liver
8	chr4:111010400-111024800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:111011000-111026000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:111011000-111040200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:111011400-111025800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:111012800-111025800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:111012800-111027800	Weak transcription	Fetal Intestine Small	intestine
14	chr4:111013000-111040400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:111013400-111025800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:111013400-111027200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:111013600-111027400	Weak transcription	NH-A	brain
18	chr4:111013600-111027600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:111013600-111027600	Weak transcription	NHLF	lung
20	chr4:111013600-111040400	Weak transcription	Fetal Kidney	kidney
21	chr4:111013800-111025600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:111013800-111025800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:111014000-111025800	Weak transcription	HMEC	breast
24	chr4:111014400-111025200	Weak transcription	NHDF-Ad	bronchial
25	chr4:111014800-111026000	Weak transcription	Osteobl	bone
26	chr4:111017800-111025200	Weak transcription	HSMM	muscle
27	chr4:111017800-111025800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr4:111017800-111025800	Weak transcription	HSMMtube	muscle
29	chr4:111018000-111025800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr4:111018000-111025800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:111019000-111027800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:111020400-111025800	Weak transcription	Gastric	stomach
33	chr4:111020400-111025800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr4:111020600-111028600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:111021000-111025800	Weak transcription	K562	blood
36	chr4:111021200-111026000	Weak transcription	NHEK	skin
37	chr4:111021400-111024600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr4:111021400-111025800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:111022000-111028000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr4:111022200-111025200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:111022800-111027800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:111023000-111025800	Weak transcription	Aorta	Aorta
43	chr4:111023200-111026000	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:111023400-111024600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr4:111023400-111025800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:111023400-111026800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:111023400-111027600	Weak transcription	Hela-S3	cervix
48	chr4:111023400-111029600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:111023600-111027600	Weak transcription	A549	lung
50	chr4:111023600-111027800	Weak transcription	Pancreas	Pancrea

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