Variant report

Variant	rs17001550
Chromosome Location	chr4:77082273-77082274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1583942	1.00[AMR][1000 genomes]
rs17001352	1.00[AMR][1000 genomes]
rs17001358	1.00[AMR][1000 genomes]
rs17001653	1.00[AMR][1000 genomes]
rs17001718	1.00[AMR][1000 genomes]
rs17001742	1.00[AMR][1000 genomes]
rs17001751	1.00[AMR][1000 genomes]
rs2083654	1.00[AMR][1000 genomes]
rs55680121	1.00[AMR][1000 genomes]
rs56235958	1.00[AMR][1000 genomes]
rs56693549	1.00[AMR][1000 genomes]
rs57573839	1.00[AMR][1000 genomes]
rs58052237	1.00[AMR][1000 genomes]
rs59086574	1.00[AMR][1000 genomes]
rs59732112	1.00[AMR][1000 genomes]
rs73825597	1.00[AMR][1000 genomes]
rs73825862	1.00[AMR][1000 genomes]
rs73825884	1.00[AMR][1000 genomes]
rs73826326	1.00[AMR][1000 genomes]
rs73826328	1.00[AMR][1000 genomes]
rs73826329	1.00[AMR][1000 genomes]
rs73826330	1.00[AMR][1000 genomes]
rs73826331	1.00[AMR][1000 genomes]
rs73826332	1.00[AMR][1000 genomes]
rs73826360	1.00[AMR][1000 genomes]
rs73829003	1.00[AMR][1000 genomes]
rs73829006	1.00[AMR][1000 genomes]
rs73829007	1.00[AMR][1000 genomes]
rs7670989	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470047	chr4:77033590-77096777	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv594693	chr4:77033590-77101068	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv461558	chr4:77033725-77115553	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv594694	chr4:77033725-77115553	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1008318	chr4:77042356-77095658	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv537144	chr4:77042356-77095658	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv1000539	chr4:77042356-77105492	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1000178	chr4:77053046-77113080	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77070000-77082600	Weak transcription	Spleen	Spleen
2	chr4:77070200-77082400	Weak transcription	Small Intestine	intestine
3	chr4:77070200-77082600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:77070200-77082600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:77070200-77082600	Weak transcription	Gastric	stomach
6	chr4:77070200-77082800	Weak transcription	Lung	lung
7	chr4:77070400-77082600	Weak transcription	Aorta	Aorta
8	chr4:77070400-77093400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:77070600-77082400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:77070600-77083800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr4:77070600-77113600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:77070800-77082400	Weak transcription	NH-A	brain
13	chr4:77070800-77082600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:77070800-77082600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr4:77070800-77082600	Weak transcription	A549	lung
16	chr4:77070800-77083000	Weak transcription	Colonic Mucosa	Colon
17	chr4:77070800-77083800	Weak transcription	Fetal Kidney	kidney
18	chr4:77070800-77088400	Weak transcription	Stomach Mucosa	stomach
19	chr4:77070800-77093800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:77071000-77082400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:77071000-77082400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:77071000-77082400	Weak transcription	HMEC	breast
23	chr4:77071000-77082600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr4:77071000-77086800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr4:77071000-77087200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr4:77071200-77082400	Weak transcription	GM12878-XiMat	blood
27	chr4:77071200-77082600	Weak transcription	Right Ventricle	heart
28	chr4:77071200-77084200	Weak transcription	Fetal Thymus	thymus
29	chr4:77071200-77087800	Weak transcription	HepG2	liver
30	chr4:77071200-77113600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr4:77071600-77088600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr4:77076400-77082600	Weak transcription	Fetal Intestine Small	intestine
33	chr4:77077400-77089000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr4:77077600-77082600	Weak transcription	Fetal Stomach	stomach
35	chr4:77077800-77082600	Weak transcription	Pancreas	Pancrea
36	chr4:77077800-77084200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr4:77077800-77089800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:77078000-77082600	Weak transcription	Psoas Muscle	Psoas
39	chr4:77078000-77089200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:77078200-77082600	Weak transcription	HSMMtube	muscle
41	chr4:77078200-77100600	Weak transcription	K562	blood
42	chr4:77078400-77082600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:77078400-77084000	Weak transcription	Fetal Heart	heart
44	chr4:77078400-77087000	Weak transcription	NHEK	skin
45	chr4:77078600-77100800	Strong transcription	Placenta	Placenta
46	chr4:77078800-77082400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:77079000-77082600	Weak transcription	Esophagus	oesophagus
48	chr4:77079200-77082600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:77079200-77089400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr4:77079200-77098000	Strong transcription	Fetal Muscle Leg	muscle

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