Variant report

Variant	rs72997704
Chromosome Location	chr4:166221007-166221008
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	chr4:166220524..166222545-chr4:166227451..166229445,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11722307	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11723812	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725104	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11726821	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11729242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730816	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11733838	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34274617	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35068327	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129766	0.86[EUR][1000 genomes]
rs55951309	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56208210	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56229427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56919208	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57645545	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57715828	0.86[AFR][1000 genomes]
rs59089770	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59263314	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59639455	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60197231	0.93[AMR][1000 genomes]
rs60459687	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61149197	0.83[ASN][1000 genomes]
rs72993975	0.83[ASN][1000 genomes]
rs72995922	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72995990	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72995992	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72995999	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72997706	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73860621	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73860622	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73860630	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73875268	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166192800-166223000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr4:166198200-166230000	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:166199600-166223000	Weak transcription	Ovary	ovary
4	chr4:166204200-166223000	Weak transcription	Thymus	Thymus
5	chr4:166204800-166221200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:166210200-166222800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:166210400-166222200	Weak transcription	NHDF-Ad	bronchial
8	chr4:166210400-166222400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:166210400-166222400	Weak transcription	NHLF	lung
10	chr4:166210400-166223000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:166210400-166223000	Weak transcription	HSMM	muscle
12	chr4:166210400-166223000	Weak transcription	NH-A	brain
13	chr4:166210400-166229000	Weak transcription	HMEC	breast
14	chr4:166210600-166223200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:166212800-166223000	Weak transcription	HUVEC	blood vessel
16	chr4:166214400-166246600	Weak transcription	Placenta	Placenta
17	chr4:166215400-166223000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr4:166216000-166221400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:166216000-166222800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:166216000-166223200	Weak transcription	Small Intestine	intestine
21	chr4:166216000-166236800	Weak transcription	Colonic Mucosa	Colon
22	chr4:166216200-166223000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:166216200-166230000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:166216400-166231600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:166216400-166240200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:166216600-166221600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr4:166216600-166222400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr4:166216800-166222200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:166217000-166221800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:166217200-166221400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:166217200-166221400	Strong transcription	Primary T cells from cord blood	blood
32	chr4:166217200-166221600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:166217400-166222200	Weak transcription	Brain Angular Gyrus	brain
34	chr4:166217400-166223000	Weak transcription	A549	lung
35	chr4:166218000-166232200	Weak transcription	Fetal Heart	heart
36	chr4:166218600-166221200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:166218600-166221200	Strong transcription	Fetal Intestine Large	intestine
38	chr4:166218600-166221800	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr4:166218800-166221200	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:166218800-166221800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:166218800-166223000	Weak transcription	K562	blood
42	chr4:166219200-166222200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr4:166219200-166222800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:166219200-166223000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr4:166219200-166223200	Weak transcription	Gastric	stomach
46	chr4:166219200-166225000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:166219200-166229000	Weak transcription	NHEK	skin
48	chr4:166219200-166240400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr4:166219400-166222200	Weak transcription	Brain Anterior Caudate	brain
50	chr4:166219400-166222600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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