Variant report

Variant	rs2389688
Chromosome Location	chr4:119736796-119736797
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119734323..119737022-chr4:119746808..119748529,2	K562	blood:
2	chr4:119733774..119738029-chr4:119752570..119758602,5	K562	blood:

Variant related genes	Relation type
ENSG00000150961	Chromatin interaction

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

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

rs_ID	r²[population]
rs1019696	0.97[ASN][1000 genomes]
rs11098453	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11098459	0.86[ASN][1000 genomes]
rs11098460	0.86[ASN][1000 genomes]
rs12512594	0.86[ASN][1000 genomes]
rs12643205	0.97[ASN][1000 genomes]
rs13112913	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13139244	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1365549	0.86[ASN][1000 genomes]
rs1365550	0.87[ASN][1000 genomes]
rs1365551	0.87[ASN][1000 genomes]
rs1962840	0.96[ASN][1000 genomes]
rs2114461	0.81[ASN][1000 genomes]
rs2303512	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34057511	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35934778	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs36096663	0.99[ASN][1000 genomes]
rs3775839	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3775840	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4833592	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4833593	0.96[ASN][1000 genomes]
rs4834705	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4834706	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6811006	0.95[ASN][1000 genomes]
rs6817084	0.94[ASN][1000 genomes]
rs7375858	0.87[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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv516777	chr4:119733366-119762951	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119703800-119738200	Strong transcription	Placenta	Placenta
2	chr4:119704200-119740000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:119705200-119748200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:119712400-119739000	Strong transcription	Fetal Muscle Leg	muscle
5	chr4:119713800-119739600	Strong transcription	Fetal Muscle Trunk	muscle
6	chr4:119714000-119738200	Strong transcription	Duodenum Mucosa	Duodenum
7	chr4:119714000-119739000	Strong transcription	HSMM	muscle
8	chr4:119714000-119739200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:119714400-119740200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:119714600-119737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:119716200-119738000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr4:119716400-119737200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:119716800-119738600	Strong transcription	GM12878-XiMat	blood
14	chr4:119717600-119737600	Strong transcription	Fetal Intestine Large	intestine
15	chr4:119718200-119739600	Weak transcription	Brain Germinal Matrix	brain
16	chr4:119718400-119756000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:119718600-119744200	Weak transcription	Hela-S3	cervix
18	chr4:119718600-119753600	Weak transcription	Fetal Heart	heart
19	chr4:119719000-119756200	Weak transcription	Fetal Brain Male	brain
20	chr4:119719600-119737000	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:119720600-119738200	Strong transcription	NH-A	brain
22	chr4:119722600-119737600	Strong transcription	HUVEC	blood vessel
23	chr4:119722800-119738600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:119723000-119738000	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr4:119723200-119738600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:119723600-119738800	Strong transcription	Dnd41	blood
27	chr4:119724000-119737600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr4:119724000-119748200	Weak transcription	Psoas Muscle	Psoas
29	chr4:119724600-119737400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:119724600-119738200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:119725000-119737400	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr4:119725400-119737200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr4:119725400-119738600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:119725400-119738600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr4:119725400-119739000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:119725600-119738600	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:119725600-119738800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:119725800-119737200	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr4:119725800-119737400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr4:119725800-119737600	Strong transcription	Fetal Stomach	stomach
41	chr4:119726000-119737200	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr4:119726000-119737400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:119726200-119737200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr4:119726200-119740000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:119727000-119737800	Strong transcription	Pancreatic Islets	Pancreatic Islet
46	chr4:119727000-119744000	Weak transcription	Stomach Mucosa	stomach
47	chr4:119729600-119737200	Strong transcription	Primary B cells from peripheral blood	blood
48	chr4:119730000-119737000	Strong transcription	Colonic Mucosa	Colon
49	chr4:119730400-119736800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr4:119730400-119737600	Strong transcription	NHEK	skin

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