Variant report

Variant	rs62318093
Chromosome Location	chr4:107231620-107231621
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	chr4:107226289..107231817-chr4:107234990..107238909,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164022	Chromatin interaction
ENSG00000145348	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs4472215	0.84[EUR][1000 genomes]
rs4552462	0.84[EUR][1000 genomes]
rs57000190	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62318075	0.88[EUR][1000 genomes]
rs62318079	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62318080	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62318082	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62318085	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62318087	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62318088	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62318089	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62318090	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62318091	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62318092	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62318116	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62318118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62318123	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62318124	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62318125	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62320124	0.84[EUR][1000 genomes]
rs62320128	0.84[EUR][1000 genomes]
rs62320129	0.84[EUR][1000 genomes]
rs62321364	0.84[EUR][1000 genomes]
rs62321372	0.84[EUR][1000 genomes]
rs62321373	0.84[EUR][1000 genomes]
rs62321374	0.84[EUR][1000 genomes]
rs62321375	0.84[EUR][1000 genomes]
rs62321376	0.84[EUR][1000 genomes]
rs62321377	0.88[EUR][1000 genomes]
rs62321378	0.88[EUR][1000 genomes]
rs62321380	0.86[EUR][1000 genomes]
rs72660519	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72660521	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72660524	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72660532	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72675702	0.84[EUR][1000 genomes]
rs72677343	0.85[EUR][1000 genomes]
rs72677353	0.88[EUR][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	nsv830029	chr4:107203096-107353483	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv1819960	chr4:107216320-107246136	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107114600-107236000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:107155600-107236000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr4:107178000-107236200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:107178000-107236200	Weak transcription	Right Ventricle	heart
5	chr4:107178000-107236600	Weak transcription	Esophagus	oesophagus
6	chr4:107178000-107236600	Weak transcription	Pancreas	Pancrea
7	chr4:107178200-107236000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr4:107198800-107235600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:107202800-107236000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr4:107204000-107235800	Weak transcription	Psoas Muscle	Psoas
11	chr4:107204000-107236200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:107205600-107236000	Weak transcription	Brain Anterior Caudate	brain
13	chr4:107209200-107236000	Weak transcription	HMEC	breast
14	chr4:107212200-107234400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:107213200-107235600	Weak transcription	Fetal Kidney	kidney
16	chr4:107213200-107236200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:107213400-107236000	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:107213400-107236200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr4:107215600-107236000	Weak transcription	Brain Germinal Matrix	brain
20	chr4:107215600-107236200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr4:107215800-107236600	Weak transcription	Small Intestine	intestine
22	chr4:107215800-107236800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:107216000-107235600	Weak transcription	Fetal Intestine Small	intestine
24	chr4:107216200-107236200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr4:107216200-107236200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr4:107216200-107236200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:107216400-107233800	Weak transcription	NH-A	brain
28	chr4:107216400-107235200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:107216400-107236000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr4:107216400-107236200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:107216400-107236200	Weak transcription	Thymus	Thymus
32	chr4:107216400-107236600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:107217800-107236000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr4:107218800-107236200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr4:107220200-107235600	Weak transcription	Fetal Brain Male	brain
36	chr4:107221200-107236000	Weak transcription	Placenta	Placenta
37	chr4:107221200-107236000	Weak transcription	HUVEC	blood vessel
38	chr4:107221200-107236600	Weak transcription	Left Ventricle	heart
39	chr4:107221400-107234200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr4:107221400-107236000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:107221400-107236000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr4:107221400-107236200	Weak transcription	Fetal Stomach	stomach
43	chr4:107221800-107236200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr4:107222000-107234400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr4:107223600-107233000	Weak transcription	HSMMtube	muscle
46	chr4:107223600-107234400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:107223600-107236000	Weak transcription	Brain Hippocampus Middle	brain
48	chr4:107223600-107236200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:107223600-107236200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr4:107223800-107232400	Weak transcription	NHLF	lung

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