Variant report

Variant	rs71641736
Chromosome Location	chr1:61930010-61930011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:61921611..61924387-chr1:61929342..61930977,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11207744	0.82[ASN][1000 genomes]
rs11485614	0.92[ASN][1000 genomes]
rs12758810	1.00[AFR][1000 genomes]
rs35962776	1.00[AFR][1000 genomes]
rs61541698	0.96[ASN][1000 genomes]
rs74088115	0.85[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61916800-61932000	Weak transcription	Lung	lung
2	chr1:61917600-61931000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:61919000-61930400	Weak transcription	Esophagus	oesophagus
4	chr1:61919000-61938600	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:61919600-61936000	Weak transcription	Right Atrium	heart
6	chr1:61920000-61930400	Weak transcription	Fetal Heart	heart
7	chr1:61920000-61931800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:61920800-61931000	Weak transcription	Brain Germinal Matrix	brain
9	chr1:61921600-61930200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:61921600-61930400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:61921800-61930800	Weak transcription	Fetal Lung	lung
12	chr1:61921800-61938600	Weak transcription	NHEK	skin
13	chr1:61923000-61934600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:61924200-61933200	Weak transcription	Brain Substantia Nigra	brain
15	chr1:61927200-61930800	Strong transcription	Fetal Stomach	stomach
16	chr1:61927400-61932400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:61927600-61932000	Weak transcription	Left Ventricle	heart
18	chr1:61927600-61935200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:61928000-61930200	Weak transcription	HepG2	liver
20	chr1:61928800-61930400	Weak transcription	Liver	Liver
21	chr1:61928800-61932800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:61928800-61933600	Weak transcription	Fetal Brain Female	brain
23	chr1:61929000-61935000	Weak transcription	Adipose Nuclei	Adipose
24	chr1:61929000-61935200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:61929400-61930400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr1:61929400-61933600	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:61929400-61938400	Weak transcription	Aorta	Aorta
28	chr1:61929600-61938800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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