Variant report

Variant	rs72929880
Chromosome Location	chr1:61736004-61736005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61733972..61736610-chr1:61780635..61784681,3	K562	blood:
2	chr1:61728304..61732793-chr1:61733623..61738337,5	K562	blood:
3	chr1:61724468..61727373-chr1:61734110..61737676,4	K562	blood:
4	chr1:61698276..61700833-chr1:61735388..61737265,2	K562	blood:
5	chr1:61522747..61524252-chr1:61734041..61737006,2	K562	blood:
6	chr1:61734323..61736930-chr1:61738925..61740975,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11802718	1.00[AFR][1000 genomes]
rs72911904	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911905	0.84[AFR][1000 genomes]
rs72911907	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911909	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929861	0.89[AFR][1000 genomes]
rs72929865	0.95[AFR][1000 genomes]
rs72929868	0.95[AFR][1000 genomes]
rs72929875	1.00[AFR][1000 genomes]
rs72929877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9988512	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9988610	0.89[AFR][1000 genomes];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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61719400-61737200	Weak transcription	Esophagus	oesophagus
2	chr1:61720800-61755800	Weak transcription	Fetal Intestine Small	intestine
3	chr1:61721000-61754400	Weak transcription	Pancreas	Pancrea
4	chr1:61722800-61740600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:61725800-61750400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:61726000-61742800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:61726000-61743200	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:61727200-61737400	Enhancers	HepG2	liver
9	chr1:61728000-61740600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:61729200-61742000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:61729600-61754400	Weak transcription	Lung	lung
12	chr1:61731000-61737000	Weak transcription	Stomach Mucosa	stomach
13	chr1:61732400-61736600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:61732600-61736400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:61732600-61737600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:61732600-61742800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:61732800-61750000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:61733200-61736400	Enhancers	K562	blood
19	chr1:61733200-61737400	Enhancers	Brain Cingulate Gyrus	brain
20	chr1:61733200-61737800	Enhancers	Brain Hippocampus Middle	brain
21	chr1:61733400-61739200	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:61733600-61737200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:61733800-61737400	Enhancers	A549	lung
24	chr1:61734000-61737400	Enhancers	Fetal Brain Male	brain
25	chr1:61734000-61739200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:61734200-61737600	Enhancers	Brain Angular Gyrus	brain
27	chr1:61734400-61736200	Weak transcription	HUVEC	blood vessel
28	chr1:61734600-61737200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr1:61734800-61736200	Enhancers	Brain Anterior Caudate	brain
30	chr1:61734800-61736800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:61734800-61737200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr1:61734800-61737400	Enhancers	Fetal Brain Female	brain
33	chr1:61734800-61737600	Enhancers	Brain Germinal Matrix	brain
34	chr1:61734800-61738600	Weak transcription	Right Atrium	heart
35	chr1:61734800-61738800	Weak transcription	Left Ventricle	heart
36	chr1:61734800-61739000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:61735400-61736800	Weak transcription	Small Intestine	intestine
38	chr1:61735400-61737000	Weak transcription	Ovary	ovary
39	chr1:61735400-61738000	Enhancers	Brain Substantia Nigra	brain
40	chr1:61735400-61739000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:61735400-61739000	Weak transcription	Psoas Muscle	Psoas
42	chr1:61735600-61736600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:61735600-61738200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:61735600-61738800	Weak transcription	Adipose Nuclei	Adipose
45	chr1:61735600-61738800	Weak transcription	Fetal Lung	lung
46	chr1:61735600-61740600	Weak transcription	Liver	Liver
47	chr1:61735600-61742000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:61735600-61743200	Weak transcription	Fetal Stomach	stomach
49	chr1:61735800-61742000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:61735800-61742000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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