Variant report

Variant	rs74086704
Chromosome Location	chr1:61718570-61718571
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61716395..61718600-chr1:61728378..61730770,2	K562	blood:
2	chr1:61716395..61718600-chr1:61728241..61730770,3	K562	blood:
3	chr1:61546491..61548608-chr1:61718284..61720951,3	K562	blood:

Variant related genes	Relation type
ENSG00000162599	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57855706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58144157	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090325	1.00[AMR][1000 genomes]
rs74090333	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090343	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090345	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090356	1.00[AFR][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:60 , 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	chr1:61707400-61718800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:61707400-61718800	Weak transcription	Gastric	stomach
4	chr1:61707600-61719000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:61707800-61718600	Weak transcription	Stomach Mucosa	stomach
6	chr1:61708000-61718800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:61708000-61720400	Weak transcription	Colonic Mucosa	Colon
8	chr1:61709600-61719000	Weak transcription	Lung	lung
9	chr1:61710200-61718800	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:61710200-61718800	Weak transcription	Small Intestine	intestine
11	chr1:61710200-61720400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:61710400-61718800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:61710400-61718800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:61710400-61718800	Weak transcription	Fetal Stomach	stomach
15	chr1:61713200-61718800	Weak transcription	Fetal Brain Male	brain
16	chr1:61713400-61718600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:61713400-61718600	Weak transcription	Pancreas	Pancrea
18	chr1:61713400-61718600	Weak transcription	Right Atrium	heart
19	chr1:61713400-61718600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:61713400-61718600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:61713400-61718800	Weak transcription	Left Ventricle	heart
22	chr1:61714000-61718600	Weak transcription	Right Ventricle	heart
23	chr1:61714200-61718600	Weak transcription	A549	lung
24	chr1:61714200-61718800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:61714200-61718800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:61714200-61718800	Weak transcription	Psoas Muscle	Psoas
27	chr1:61714400-61718600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:61714400-61718600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:61714400-61718600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:61714400-61720200	Weak transcription	Brain Germinal Matrix	brain
31	chr1:61714600-61718600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr1:61714600-61718600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:61714600-61718600	Weak transcription	Adipose Nuclei	Adipose
34	chr1:61714600-61718600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr1:61714600-61718800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:61715600-61720200	Enhancers	Fetal Heart	heart
37	chr1:61715600-61725200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:61715800-61718600	Weak transcription	Ovary	ovary
39	chr1:61716000-61718800	Weak transcription	Fetal Brain Female	brain
40	chr1:61716000-61720400	Enhancers	Colon Smooth Muscle	Colon
41	chr1:61716000-61725600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr1:61716400-61718800	Enhancers	Rectal Smooth Muscle	rectum
43	chr1:61716600-61718800	Weak transcription	NHLF	lung
44	chr1:61716800-61718600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:61717000-61718600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:61717000-61718800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:61717000-61718800	Weak transcription	Aorta	Aorta
48	chr1:61717000-61718800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:61717000-61720000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:61717000-61720400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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