Variant report

Variant	rs7540527
Chromosome Location	chr1:61706073-61706074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61701203..61703807-chr1:61704252..61706919,4	K562	blood:
2	chr1:61705176..61707440-chr1:61708242..61713126,6	K562	blood:
3	chr1:61703917..61705509-chr1:61705785..61707297,2	K562	blood:
4	chr1:61586978..61588687-chr1:61705732..61707786,2	K562	blood:

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

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

rs_ID	r²[population]
rs12058566	0.83[CEU][hapmap]
rs12565984	0.94[EUR][1000 genomes]
rs17121853	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs34351432	0.97[EUR][1000 genomes]
rs3737196	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs67412653	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67613990	0.94[EUR][1000 genomes];0.94[ASN][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	esv1849929	chr1:61684084-61714142	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61680000-61720200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:61682000-61706800	Weak transcription	Gastric	stomach
3	chr1:61692800-61706800	Weak transcription	Fetal Lung	lung
4	chr1:61692800-61707000	Weak transcription	Fetal Stomach	stomach
5	chr1:61692800-61707200	Weak transcription	Pancreas	Pancrea
6	chr1:61693000-61706800	Weak transcription	Brain Angular Gyrus	brain
7	chr1:61693000-61706800	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:61694000-61706800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:61694200-61706800	Weak transcription	Adipose Nuclei	Adipose
10	chr1:61694200-61707000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:61696600-61706800	Weak transcription	Right Ventricle	heart
12	chr1:61696600-61707200	Weak transcription	Left Ventricle	heart
13	chr1:61696800-61707000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:61696800-61707200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:61696800-61707200	Weak transcription	Small Intestine	intestine
16	chr1:61699400-61706800	Weak transcription	HepG2	liver
17	chr1:61700800-61707400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:61701600-61706200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:61701600-61706200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:61701600-61707200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:61702400-61706400	Weak transcription	Fetal Heart	heart
22	chr1:61703600-61706800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:61703600-61713600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:61703800-61706800	Weak transcription	A549	lung
25	chr1:61704200-61706800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:61704200-61706800	Weak transcription	NHEK	skin
27	chr1:61704200-61707000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:61704200-61707000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:61704200-61707200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:61704200-61707200	Weak transcription	HMEC	breast
31	chr1:61704400-61706800	Weak transcription	Brain Anterior Caudate	brain
32	chr1:61704400-61706800	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:61704400-61706800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:61704400-61706800	Weak transcription	Brain Substantia Nigra	brain
35	chr1:61704400-61706800	Weak transcription	Fetal Brain Male	brain
36	chr1:61704400-61706800	Weak transcription	Right Atrium	heart
37	chr1:61704600-61706600	Weak transcription	Liver	Liver
38	chr1:61704600-61706800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:61704600-61706800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:61704600-61706800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:61704600-61707200	Weak transcription	K562	blood
42	chr1:61704600-61707800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:61704600-61713400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:61704600-61713600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:61705000-61706800	Weak transcription	Fetal Brain Female	brain
46	chr1:61705400-61715200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:61705600-61706800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr1:61705600-61706800	Enhancers	Brain Germinal Matrix	brain
49	chr1:61705800-61706200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr1:61705800-61706200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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