Variant report

Variant	rs58161850
Chromosome Location	chr1:209960519-209960520
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr1:209960509-209960703	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209955520..209962214-chr1:209976009..209982555,8	K562	blood:
2	chr1:209958606..209961246-chr1:209973550..209976119,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf74-1	chr1:209960324-209960799	ENSG00000232222.1

Variant related genes	Relation type
C1orf74	TF binding region
ENSG00000117595	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs34540624	1.00[EUR][1000 genomes]
rs59510838	1.00[EUR][1000 genomes]
rs61578995	1.00[EUR][1000 genomes]
rs6664908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73093803	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73093804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73093807	1.00[EUR][1000 genomes]
rs7533957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7555528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1006632	chr1:209886202-209970355	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv4343	chr1:209929932-209974877	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1067914	chr1:209955818-209972979	Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209957800-209978600	Weak transcription	Spleen	Spleen
2	chr1:209958000-209960600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:209958000-209961000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:209958000-209961400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:209958000-209971600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:209958200-209962600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:209958200-209963800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:209958400-209960600	Enhancers	Liver	Liver
9	chr1:209958400-209960800	Enhancers	Left Ventricle	heart
10	chr1:209958400-209961800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:209958400-209962200	Weak transcription	Esophagus	oesophagus
12	chr1:209958400-209962200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr1:209958400-209962400	Enhancers	Stomach Mucosa	stomach
14	chr1:209958400-209962800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:209958400-209968600	Weak transcription	Lung	lung
16	chr1:209958400-209971800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:209958400-209974000	Weak transcription	Aorta	Aorta
18	chr1:209958400-209978600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:209958600-209960600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:209958600-209960800	Weak transcription	Placenta	Placenta
21	chr1:209958600-209961200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:209958600-209961400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:209958600-209961400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr1:209958600-209962400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:209958600-209963600	Weak transcription	HUVEC	blood vessel
26	chr1:209958600-209966200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:209958600-209966600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr1:209958600-209967000	Genic enhancers	NHEK	skin
29	chr1:209958600-209971200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:209958600-209972000	Weak transcription	Fetal Kidney	kidney
31	chr1:209958600-209978800	Weak transcription	Right Ventricle	heart
32	chr1:209959200-209960800	Enhancers	Small Intestine	intestine
33	chr1:209959400-209960800	Enhancers	Fetal Heart	heart
34	chr1:209959400-209965000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:209959600-209962200	Enhancers	Colon Smooth Muscle	Colon
36	chr1:209959600-209966000	Genic enhancers	Fetal Intestine Small	intestine
37	chr1:209959800-209960600	Enhancers	Stomach Smooth Muscle	stomach
38	chr1:209959800-209961000	Enhancers	Adipose Nuclei	Adipose
39	chr1:209959800-209962000	Genic enhancers	Fetal Intestine Large	intestine
40	chr1:209959800-209962200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr1:209960000-209961200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr1:209960200-209960600	Enhancers	Duodenum Mucosa	Duodenum
43	chr1:209960200-209960600	Enhancers	Gastric	stomach
44	chr1:209960200-209961000	Enhancers	Right Atrium	heart
45	chr1:209960200-209961800	Enhancers	Pancreas	Pancrea
46	chr1:209960400-209960600	Genic enhancers	Rectal Mucosa Donor 29	rectum
47	chr1:209960400-209960600	Enhancers	Rectal Smooth Muscle	rectum
48	chr1:209960400-209960800	Enhancers	Colonic Mucosa	Colon
49	chr1:209960400-209962200	Genic enhancers	HMEC	breast
50	chr1:209960400-209962600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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