Variant report

Variant	rs72666617
Chromosome Location	chr1:61783744-61783745
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61777609..61779531-chr1:61779675..61784488,4	K562	blood:
2	chr1:59245570..59248484-chr1:61782798..61784305,2	K562	blood:
3	chr1:61783085..61786028-chr1:61788145..61790007,2	MCF-7	breast:
4	chr1:61733972..61736610-chr1:61780635..61784681,3	K562	blood:

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

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

rs_ID	r²[population]
rs12735438	1.00[ASN][1000 genomes]
rs2067774	1.00[ASN][1000 genomes]
rs6657128	1.00[ASN][1000 genomes]
rs6675218	1.00[ASN][1000 genomes]
rs71641729	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 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	chr1:61744600-61798600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:61755600-61784000	Weak transcription	Esophagus	oesophagus
3	chr1:61760800-61783800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:61765400-61784000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:61767800-61783800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:61767800-61784000	Weak transcription	Liver	Liver
7	chr1:61768000-61783800	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:61768000-61783800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:61768000-61784400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:61768800-61784400	Weak transcription	A549	lung
11	chr1:61769400-61784000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:61776000-61784600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:61776400-61784000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:61776600-61784000	Weak transcription	Aorta	Aorta
15	chr1:61777800-61784000	Weak transcription	Gastric	stomach
16	chr1:61778400-61792800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:61779000-61784600	Weak transcription	Fetal Intestine Large	intestine
18	chr1:61779200-61783800	Weak transcription	Fetal Lung	lung
19	chr1:61779200-61785200	Weak transcription	Fetal Intestine Small	intestine
20	chr1:61779800-61783800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:61779800-61784200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:61780000-61784000	Weak transcription	Pancreas	Pancrea
23	chr1:61780000-61784200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:61780000-61784400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:61780000-61784600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:61780200-61784200	Weak transcription	HepG2	liver
27	chr1:61780600-61784000	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:61782000-61784000	Weak transcription	Brain Substantia Nigra	brain
29	chr1:61782200-61784000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:61782200-61784000	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:61782200-61784000	Weak transcription	Fetal Stomach	stomach
32	chr1:61782200-61788600	Weak transcription	Fetal Brain Female	brain
33	chr1:61782400-61783800	Weak transcription	Right Atrium	heart
34	chr1:61782400-61784000	Weak transcription	Brain Anterior Caudate	brain
35	chr1:61782400-61784000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:61782400-61784000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:61782400-61784000	Weak transcription	Left Ventricle	heart
38	chr1:61782400-61784000	Weak transcription	Ovary	ovary
39	chr1:61782400-61784000	Weak transcription	Psoas Muscle	Psoas
40	chr1:61782400-61784000	Weak transcription	Right Ventricle	heart
41	chr1:61782400-61784000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:61782400-61784600	Weak transcription	Brain Angular Gyrus	brain
43	chr1:61782400-61785400	Weak transcription	Spleen	Spleen
44	chr1:61782600-61783800	Weak transcription	Fetal Kidney	kidney
45	chr1:61782600-61784000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:61783400-61783800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:61783400-61783800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:61783400-61783800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:61783400-61783800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr1:61783400-61783800	Enhancers	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links