Variant report

Variant	rs4864769
Chromosome Location	chr4:54376709-54376710
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	chr4:54375519..54377286-chr4:54400053..54402800,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10006662	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10032378	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs13150432	0.82[YRI][hapmap]
rs1435212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1435213	0.84[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1435224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1865509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2117596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2117597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2117598	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2137896	1.00[AMR][1000 genomes]
rs2412485	0.85[AFR][1000 genomes]
rs4241975	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4864462	0.83[YRI][hapmap]
rs4864463	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4864464	1.00[AFR][1000 genomes]
rs4864465	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4864764	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs4864768	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs4864770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4864771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4864772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4864775	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6554097	0.84[YRI][hapmap]
rs6821777	0.84[YRI][hapmap]
rs6824775	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6841529	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6851386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6853466	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6856534	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7685118	1.00[AMR][1000 genomes]
rs7687290	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs7697807	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs9684941	0.84[YRI][hapmap]

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	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv21302	chr4:54375399-54378966	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54343000-54385600	Weak transcription	Fetal Brain Female	brain
2	chr4:54343200-54376800	Weak transcription	Brain Anterior Caudate	brain
3	chr4:54347600-54401800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:54355200-54378600	Weak transcription	Fetal Brain Male	brain
5	chr4:54363200-54384200	Weak transcription	Esophagus	oesophagus
6	chr4:54363800-54384000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:54366600-54384200	Weak transcription	Pancreas	Pancrea
8	chr4:54372800-54388400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:54374400-54376800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:54374400-54399000	Weak transcription	Fetal Intestine Large	intestine
11	chr4:54374400-54421000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:54374600-54376800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:54374600-54377800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:54374800-54377000	Enhancers	Osteobl	bone
15	chr4:54374800-54377600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:54374800-54393600	Weak transcription	Placenta	Placenta
17	chr4:54375000-54376800	Weak transcription	Psoas Muscle	Psoas
18	chr4:54375000-54378000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:54375000-54393600	Weak transcription	Gastric	stomach
20	chr4:54375000-54398800	Weak transcription	Fetal Intestine Small	intestine
21	chr4:54375200-54377000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:54375400-54376800	Weak transcription	HSMM	muscle
23	chr4:54375400-54377200	Weak transcription	Stomach Mucosa	stomach
24	chr4:54375800-54377600	Enhancers	Right Atrium	heart
25	chr4:54376200-54377600	Enhancers	NHDF-Ad	bronchial
26	chr4:54376200-54378200	Enhancers	HSMMtube	muscle
27	chr4:54376400-54377200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:54376400-54377600	Enhancers	Aorta	Aorta
29	chr4:54376600-54376800	Enhancers	Liver	Liver
30	chr4:54376600-54377000	Enhancers	Brain Angular Gyrus	brain
31	chr4:54376600-54377000	Enhancers	Fetal Stomach	stomach
32	chr4:54376600-54377000	Enhancers	Ovary	ovary
33	chr4:54376600-54377600	Enhancers	Fetal Muscle Leg	muscle

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