Variant report

Variant	rs17631959
Chromosome Location	chr4:151165748-151165749
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151164204..151165925-chr4:151167206..151169474,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10015813	0.93[AMR][1000 genomes]
rs1002006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10471053	0.87[AMR][1000 genomes]
rs17631799	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17631971	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17632215	1.00[YRI][hapmap]
rs17688421	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2004467	0.93[AMR][1000 genomes]
rs2054271	0.87[AMR][1000 genomes]
rs2359940	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28713632	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35861079	0.87[AMR][1000 genomes]
rs4696635	0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73858508	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs922121	1.00[CEU][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs922122	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9999860	0.90[JPT][hapmap];0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1022132	chr4:151162048-151183859	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151138800-151169800	Weak transcription	Spleen	Spleen
2	chr4:151139600-151177400	Weak transcription	Brain Substantia Nigra	brain
3	chr4:151139600-151181000	Weak transcription	Brain Angular Gyrus	brain
4	chr4:151140000-151175000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:151142200-151172200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:151146200-151169200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:151150800-151170800	Weak transcription	Pancreas	Pancrea
8	chr4:151152400-151176400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:151156200-151173000	Weak transcription	Fetal Intestine Small	intestine
10	chr4:151156400-151169000	Weak transcription	Adipose Nuclei	Adipose
11	chr4:151156400-151169400	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:151156400-151170600	Weak transcription	Right Ventricle	heart
13	chr4:151156400-151174200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:151157000-151167800	Weak transcription	Fetal Brain Female	brain
15	chr4:151157400-151167400	Weak transcription	Fetal Brain Male	brain
16	chr4:151157600-151169400	Weak transcription	Left Ventricle	heart
17	chr4:151157600-151170800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:151158000-151181000	Weak transcription	Fetal Heart	heart
19	chr4:151158200-151167800	Weak transcription	Ovary	ovary
20	chr4:151158200-151173000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:151158800-151165800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:151158800-151170200	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:151159000-151173000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:151159200-151165800	Weak transcription	Fetal Lung	lung
25	chr4:151159200-151166200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr4:151160000-151185400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:151160400-151165800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:151160400-151169000	Weak transcription	NHLF	lung
29	chr4:151161200-151173000	Weak transcription	Brain Anterior Caudate	brain
30	chr4:151161600-151170800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:151161600-151177400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:151161800-151167600	Weak transcription	Fetal Stomach	stomach
33	chr4:151162000-151167600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr4:151162200-151167400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr4:151164000-151177400	Weak transcription	Placenta	Placenta
36	chr4:151164200-151166000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:151164200-151169400	Weak transcription	Aorta	Aorta
38	chr4:151164200-151169600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:151164600-151166400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr4:151164600-151166600	Enhancers	Fetal Kidney	kidney
41	chr4:151165200-151166200	Enhancers	Brain Germinal Matrix	brain
42	chr4:151165200-151166200	Enhancers	HSMMtube	muscle
43	chr4:151165200-151166600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:151165200-151170400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:151165400-151165800	Weak transcription	Brain Hippocampus Middle	brain
46	chr4:151165400-151166200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr4:151165400-151166400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr4:151165400-151166400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr4:151165400-151166600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:151165400-151166600	Enhancers	HSMM	muscle

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