Variant report

Variant	rs72997706
Chromosome Location	chr4:166222168-166222169
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	chr4:166220524..166222545-chr4:166227451..166229445,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11722307	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11723812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725104	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11726821	0.84[ASN][1000 genomes]
rs11729242	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730816	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11733838	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34274617	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35068327	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129766	0.81[EUR][1000 genomes]
rs55951309	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56208210	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56229427	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56919208	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57645545	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59089770	0.84[ASN][1000 genomes]
rs59263314	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59639455	0.91[ASN][1000 genomes]
rs60459687	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61149197	0.83[ASN][1000 genomes]
rs72993975	0.83[ASN][1000 genomes]
rs72995922	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72995990	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72995992	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72995999	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72997704	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73860621	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73860622	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73860630	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[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:106 , 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	chr4:166210200-166222800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:166210400-166222200	Weak transcription	NHDF-Ad	bronchial
7	chr4:166210400-166222400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:166210400-166222400	Weak transcription	NHLF	lung
9	chr4:166210400-166223000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:166210400-166223000	Weak transcription	HSMM	muscle
11	chr4:166210400-166223000	Weak transcription	NH-A	brain
12	chr4:166210400-166229000	Weak transcription	HMEC	breast
13	chr4:166210600-166223200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:166212800-166223000	Weak transcription	HUVEC	blood vessel
15	chr4:166214400-166246600	Weak transcription	Placenta	Placenta
16	chr4:166215400-166223000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:166216000-166222800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:166216000-166223200	Weak transcription	Small Intestine	intestine
19	chr4:166216000-166236800	Weak transcription	Colonic Mucosa	Colon
20	chr4:166216200-166223000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:166216200-166230000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr4:166216400-166231600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:166216400-166240200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr4:166216600-166222400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr4:166216800-166222200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:166217400-166222200	Weak transcription	Brain Angular Gyrus	brain
27	chr4:166217400-166223000	Weak transcription	A549	lung
28	chr4:166218000-166232200	Weak transcription	Fetal Heart	heart
29	chr4:166218800-166223000	Weak transcription	K562	blood
30	chr4:166219200-166222200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr4:166219200-166222800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:166219200-166223000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr4:166219200-166223200	Weak transcription	Gastric	stomach
34	chr4:166219200-166225000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:166219200-166229000	Weak transcription	NHEK	skin
36	chr4:166219200-166240400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:166219400-166222200	Weak transcription	Brain Anterior Caudate	brain
38	chr4:166219400-166222600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:166219400-166223000	Weak transcription	HSMMtube	muscle
40	chr4:166219400-166223200	Weak transcription	Esophagus	oesophagus
41	chr4:166219400-166223200	Weak transcription	Pancreas	Pancrea
42	chr4:166219400-166223200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr4:166219400-166230000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:166219400-166230600	Weak transcription	Fetal Brain Female	brain
45	chr4:166219400-166246600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:166219400-166246600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:166219600-166222400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr4:166219600-166222600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:166219600-166222600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:166219600-166222800	Weak transcription	Stomach Smooth Muscle	stomach

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