Variant report

Variant	rs17121899
Chromosome Location	chr1:61742159-61742160
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:61715305..61718261-chr1:61740987..61743600,2	K562	blood:
2	chr1:61741419..61744047-chr1:61744125..61746996,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs61177704	1.00[EUR][1000 genomes]
rs61770520	1.00[AMR][1000 genomes]
rs72929838	1.00[AMR][1000 genomes]
rs74090315	1.00[EUR][1000 genomes]
rs74090318	1.00[EUR][1000 genomes]
rs7519387	1.00[EUR][1000 genomes]
rs9436629	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	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
8	nsv530494	chr1:61723918-62084045	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61720800-61755800	Weak transcription	Fetal Intestine Small	intestine
2	chr1:61721000-61754400	Weak transcription	Pancreas	Pancrea
3	chr1:61725800-61750400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:61726000-61742800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:61726000-61743200	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:61729600-61754400	Weak transcription	Lung	lung
7	chr1:61732600-61742800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:61732800-61750000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:61735600-61743200	Weak transcription	Fetal Stomach	stomach
10	chr1:61737000-61750000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:61737200-61751600	Weak transcription	Hela-S3	cervix
12	chr1:61737400-61747600	Weak transcription	HepG2	liver
13	chr1:61737400-61750000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:61737400-61751800	Weak transcription	Esophagus	oesophagus
15	chr1:61737600-61750200	Weak transcription	NHEK	skin
16	chr1:61738000-61752600	Weak transcription	HUVEC	blood vessel
17	chr1:61739000-61746200	Enhancers	Fetal Brain Male	brain
18	chr1:61739200-61742800	Weak transcription	Left Ventricle	heart
19	chr1:61739400-61745400	Weak transcription	Small Intestine	intestine
20	chr1:61739800-61742800	Weak transcription	Psoas Muscle	Psoas
21	chr1:61740200-61742600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:61740800-61742600	Weak transcription	Right Ventricle	heart
23	chr1:61740800-61742600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:61740800-61748000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:61741000-61742600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:61741000-61742800	Weak transcription	Aorta	Aorta
27	chr1:61741000-61742800	Enhancers	Fetal Lung	lung
28	chr1:61741000-61743000	Weak transcription	Right Atrium	heart
29	chr1:61741000-61747600	Weak transcription	Liver	Liver
30	chr1:61741200-61742600	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:61741200-61742600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:61741200-61742800	Weak transcription	Fetal Brain Female	brain
33	chr1:61741400-61742200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:61741600-61742400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr1:61741800-61742200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr1:61741800-61742200	Enhancers	Brain Anterior Caudate	brain
37	chr1:61741800-61742200	Enhancers	Brain Substantia Nigra	brain
38	chr1:61741800-61742800	Enhancers	Brain Germinal Matrix	brain
39	chr1:61741800-61742800	Enhancers	Rectal Smooth Muscle	rectum
40	chr1:61741800-61742800	Enhancers	A549	lung
41	chr1:61741800-61743000	Enhancers	Brain Angular Gyrus	brain
42	chr1:61741800-61746000	Enhancers	Colon Smooth Muscle	Colon
43	chr1:61742000-61742200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:61742000-61742200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr1:61742000-61742400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:61742000-61742400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:61742000-61742600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:61742000-61743000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:61742000-61743200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr1:61742000-61743200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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