Variant report

Variant	rs72911971
Chromosome Location	chr1:61785107-61785108
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:61784481..61786407-chr1:61788060..61789976,3	K562	blood:
2	chr1:61783085..61786028-chr1:61788145..61790007,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs57722822	0.90[AFR][1000 genomes]
rs72911952	1.00[AMR][1000 genomes]
rs72911960	0.84[AFR][1000 genomes]
rs72911968	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911974	0.91[AFR][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:77 , 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	chr1:61778400-61792800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:61779200-61785200	Weak transcription	Fetal Intestine Small	intestine
4	chr1:61782200-61788600	Weak transcription	Fetal Brain Female	brain
5	chr1:61782400-61785400	Weak transcription	Spleen	Spleen
6	chr1:61783800-61785600	Enhancers	Rectal Smooth Muscle	rectum
7	chr1:61783800-61786000	Enhancers	Brain Cingulate Gyrus	brain
8	chr1:61784000-61785800	Enhancers	HSMMtube	muscle
9	chr1:61784000-61786200	Enhancers	Brain Substantia Nigra	brain
10	chr1:61784000-61786200	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr1:61784000-61786200	Enhancers	Stomach Mucosa	stomach
12	chr1:61784000-61786400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:61784000-61786400	Enhancers	Fetal Muscle Leg	muscle
14	chr1:61784000-61786600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:61784000-61786600	Enhancers	Brain Anterior Caudate	brain
16	chr1:61784000-61786600	Enhancers	Brain Hippocampus Middle	brain
17	chr1:61784000-61786600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:61784000-61786600	Enhancers	Fetal Stomach	stomach
19	chr1:61784000-61787200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:61784000-61790000	Enhancers	Liver	Liver
21	chr1:61784200-61785200	Enhancers	Hela-S3	cervix
22	chr1:61784200-61785400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:61784200-61785800	Active TSS	Fetal Brain Male	brain
24	chr1:61784200-61786600	Enhancers	HepG2	liver
25	chr1:61784200-61786600	Enhancers	K562	blood
26	chr1:61784200-61787000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:61784400-61785200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:61784400-61785400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:61784400-61785400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:61784400-61785600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:61784400-61786000	Enhancers	Small Intestine	intestine
32	chr1:61784600-61785200	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr1:61784600-61785400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:61784600-61786000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:61784600-61786200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:61784600-61786600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr1:61784600-61786600	Enhancers	Adipose Nuclei	Adipose
38	chr1:61784600-61786600	Enhancers	Right Atrium	heart
39	chr1:61784600-61786600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr1:61784600-61787800	Enhancers	NHEK	skin
41	chr1:61784600-61789600	Weak transcription	Right Ventricle	heart
42	chr1:61784800-61785200	Weak transcription	Brain Angular Gyrus	brain
43	chr1:61784800-61785200	Weak transcription	Fetal Intestine Large	intestine
44	chr1:61784800-61785200	Enhancers	NHDF-Ad	bronchial
45	chr1:61784800-61785400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:61784800-61785600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:61784800-61785600	Weak transcription	Fetal Kidney	kidney
48	chr1:61784800-61785600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:61784800-61785600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:61784800-61785800	Enhancers	NHLF	lung

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