Variant report

Variant	rs56251671
Chromosome Location	chr1:61714959-61714960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs74086705	0.88[AFR][1000 genomes]
rs74090349	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090351	0.81[AFR][1000 genomes]
rs74090358	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090359	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	19 gene(s)	inside rSNPs	diseases
2	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1001052	chr1:61702011-62090670	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61680000-61720200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:61705400-61715200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:61707400-61718800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:61707400-61718800	Weak transcription	Gastric	stomach
5	chr1:61707600-61719000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:61707800-61718600	Weak transcription	Stomach Mucosa	stomach
7	chr1:61708000-61718800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:61708000-61720400	Weak transcription	Colonic Mucosa	Colon
9	chr1:61709600-61719000	Weak transcription	Lung	lung
10	chr1:61710200-61715600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:61710200-61715600	Weak transcription	Fetal Heart	heart
12	chr1:61710200-61716600	Weak transcription	Brain Angular Gyrus	brain
13	chr1:61710200-61718800	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:61710200-61718800	Weak transcription	Small Intestine	intestine
15	chr1:61710200-61720400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:61710400-61718800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:61710400-61718800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:61710400-61718800	Weak transcription	Fetal Stomach	stomach
19	chr1:61710600-61716000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:61713000-61715000	Enhancers	Brain Substantia Nigra	brain
21	chr1:61713200-61716000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr1:61713200-61718800	Weak transcription	Fetal Brain Male	brain
23	chr1:61713400-61715600	Weak transcription	Fetal Brain Female	brain
24	chr1:61713400-61716200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:61713400-61717000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:61713400-61717000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr1:61713400-61718600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:61713400-61718600	Weak transcription	Pancreas	Pancrea
29	chr1:61713400-61718600	Weak transcription	Right Atrium	heart
30	chr1:61713400-61718600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:61713400-61718600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:61713400-61718800	Weak transcription	Left Ventricle	heart
33	chr1:61713600-61716000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:61713800-61715200	Weak transcription	Ovary	ovary
35	chr1:61713800-61715400	Weak transcription	HepG2	liver
36	chr1:61713800-61716400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:61714000-61718600	Weak transcription	Right Ventricle	heart
38	chr1:61714200-61715200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:61714200-61715400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:61714200-61716000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:61714200-61718400	Weak transcription	K562	blood
42	chr1:61714200-61718600	Weak transcription	A549	lung
43	chr1:61714200-61718800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:61714200-61718800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:61714200-61718800	Weak transcription	Psoas Muscle	Psoas
46	chr1:61714400-61715600	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:61714400-61718400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:61714400-61718600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:61714400-61718600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:61714400-61718600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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