Variant report

Variant	rs11940030
Chromosome Location	chr4:85737106-85737107
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:85736934..85739311-chr4:85741071..85744443,3	K562	blood:
2	chr4:85735628..85737387-chr4:85739794..85742256,2	MCF-7	breast:
3	chr4:85737074..85739311-chr4:85741071..85743776,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10516726	0.88[ASN][1000 genomes]
rs10516728	0.88[ASN][1000 genomes]
rs10516729	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11724870	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11726635	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728145	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11730031	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730137	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11931033	0.95[EUR][1000 genomes]
rs11936391	0.91[ASN][1000 genomes]
rs11936719	0.97[ASN][1000 genomes]
rs11947757	0.85[ASN][1000 genomes]
rs1463607	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473456	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1484662	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1601286	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16995917	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009212	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009218	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009245	0.97[ASN][1000 genomes]
rs17009286	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1994227	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015631	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7681742	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7692204	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs894533	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829655	chr4:85577491-86292692	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv532738	chr4:85590841-85777997	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv427684	chr4:85668487-85863446	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85696400-85757000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:85697400-85772800	Weak transcription	Small Intestine	intestine
3	chr4:85701600-85783000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:85704200-85739800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:85705400-85770000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:85708600-85777400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:85708800-85741200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:85709000-85769600	Weak transcription	Right Ventricle	heart
9	chr4:85709000-85781600	Weak transcription	Esophagus	oesophagus
10	chr4:85709200-85749000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:85709200-85770200	Weak transcription	Psoas Muscle	Psoas
12	chr4:85722200-85787600	Weak transcription	Gastric	stomach
13	chr4:85722400-85751800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:85722400-85762600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:85723000-85742000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:85723000-85751200	Weak transcription	Fetal Heart	heart
17	chr4:85723000-85754800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:85723000-85821000	Weak transcription	Pancreas	Pancrea
19	chr4:85723200-85749600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:85723200-85770400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr4:85723200-85777000	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:85723400-85738800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:85724000-85749400	Weak transcription	Fetal Intestine Small	intestine
24	chr4:85724000-85752000	Weak transcription	Fetal Stomach	stomach
25	chr4:85724000-85781400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:85724000-85786600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:85724200-85761600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:85724200-85769600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr4:85724600-85753000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:85724800-85739200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr4:85725200-85739600	Weak transcription	Brain Germinal Matrix	brain
32	chr4:85725800-85738000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr4:85727800-85783200	Weak transcription	Colonic Mucosa	Colon
34	chr4:85729800-85738400	Weak transcription	Left Ventricle	heart
35	chr4:85729800-85755800	Weak transcription	Ovary	ovary
36	chr4:85730800-85738400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:85730800-85740000	Weak transcription	Fetal Lung	lung
38	chr4:85730800-85760400	Weak transcription	Fetal Kidney	kidney
39	chr4:85731400-85737400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:85731400-85738600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr4:85731400-85739400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr4:85731400-85740200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr4:85731400-85740400	Weak transcription	Brain Anterior Caudate	brain
44	chr4:85731400-85749600	Weak transcription	Fetal Muscle Leg	muscle
45	chr4:85731400-85751400	Weak transcription	Fetal Brain Female	brain
46	chr4:85731400-85769600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:85731400-85791600	Weak transcription	Lung	lung
48	chr4:85731600-85738200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:85731600-85742200	Weak transcription	HepG2	liver
50	chr4:85731800-85738000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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