Variant report

Variant	rs4832193
Chromosome Location	chr2:85984563-85984564
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:85984550-85984602	ProgFib	skin:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:85968240..85969762-chr2:85984026..85986176,2	MCF-7	breast:
2	chr2:85980194..85982754-chr2:85983274..85986188,2	MCF-7	breast:
3	chr2:85984055..85985745-chr2:85996353..85999669,3	MCF-7	breast:
4	chr2:85981293..85984643-chr2:85987254..85991080,5	MCF-7	breast:
5	chr2:85983926..85985440-chr2:85991630..85993543,2	K562	blood:
6	chr2:85982980..85985381-chr2:86007826..86009347,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATOH8-3	chr2:85984506-85985437	l_1877_chr2:85969788-85975170_thyroid

No data

Variant related genes	Relation type
ATOH8	TF binding region
ENSG00000168874	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4832194	0.83[ASW][hapmap]
rs7558427	0.83[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1012593	chr2:85966323-85997189	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv1001792	chr2:85983107-86016722	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv535805	chr2:85983107-86016722	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85980800-85984600	Active TSS	Psoas Muscle	Psoas
2	chr2:85981200-85984800	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr2:85981800-85984800	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr2:85982400-85984600	Flanking Active TSS	Liver	Liver
5	chr2:85982400-85984800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr2:85982800-85984600	Enhancers	Fetal Heart	heart
7	chr2:85982800-85984800	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr2:85983000-85984600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
9	chr2:85983000-85984600	Enhancers	Pancreas	Pancrea
10	chr2:85983000-85990400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:85983200-85984800	Flanking Active TSS	Left Ventricle	heart
12	chr2:85983200-85985400	Weak transcription	Esophagus	oesophagus
13	chr2:85983200-85985600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:85983400-85984600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:85983400-85984600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr2:85983400-85984600	Flanking Active TSS	Right Atrium	heart
17	chr2:85983400-85984800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:85983400-85984800	Transcr. at gene 5' and 3'	Right Ventricle	heart
19	chr2:85983400-85984800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr2:85983400-85987000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
21	chr2:85983400-85987000	Transcr. at gene 5' and 3'	HSMM	muscle
22	chr2:85983600-85987000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr2:85983600-85989000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:85983600-85989200	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr2:85983800-85984600	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr2:85983800-85984600	Enhancers	Brain Germinal Matrix	brain
27	chr2:85983800-85984600	Enhancers	Fetal Intestine Large	intestine
28	chr2:85983800-85984600	Enhancers	A549	lung
29	chr2:85983800-85984600	Enhancers	HUVEC	blood vessel
30	chr2:85983800-85984800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr2:85983800-85984800	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr2:85983800-85985400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:85983800-85985800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:85983800-85985800	Enhancers	NHDF-Ad	bronchial
35	chr2:85983800-85986000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:85983800-85986400	Enhancers	Brain Angular Gyrus	brain
37	chr2:85983800-85986600	Genic enhancers	Gastric	stomach
38	chr2:85984000-85986600	Genic enhancers	Spleen	Spleen
39	chr2:85984200-85984600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:85984200-85984600	Enhancers	Rectal Smooth Muscle	rectum
41	chr2:85984200-85984600	Flanking Active TSS	Stomach Mucosa	stomach
42	chr2:85984200-85984600	Active TSS	Hela-S3	cervix
43	chr2:85984200-85984600	Genic enhancers	NHLF	lung
44	chr2:85984200-85984800	Genic enhancers	Fetal Intestine Small	intestine
45	chr2:85984200-85985200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:85984200-85985400	Enhancers	Brain Cingulate Gyrus	brain
47	chr2:85984200-85985400	Enhancers	Colon Smooth Muscle	Colon
48	chr2:85984200-85986200	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr2:85984200-85987000	Weak transcription	NH-A	brain
50	chr2:85984200-85992000	Weak transcription	Fetal Kidney	kidney

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