Variant report

Variant	rs1370545
Chromosome Location	chr2:85997481-85997482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:85995032..85998218-chr2:85998499..86001360,4	MCF-7	breast:
2	chr2:85996969..85997680-chr2:86041024..86041767,2	K562	blood:
3	chr2:85997012..86000139-chr2:86001257..86004684,4	MCF-7	breast:
4	chr2:85962517..85964339-chr2:85996899..85999764,2	MCF-7	breast:
5	chr2:85984055..85985745-chr2:85996353..85999669,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATOH8-3	chr2:85995837-85997833	l_1877_chr2:85969788-85975170_thyroid

No data

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13386681	0.83[CEU][hapmap]
rs13402783	0.83[CEU][hapmap]
rs13404747	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13428557	0.83[CEU][hapmap]
rs2139198	0.83[CEU][hapmap]
rs869778	0.83[CEU][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	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
3	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
4	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
5	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
6	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
7	nsv535806	chr2:85990408-86007918	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85987000-85998400	Genic enhancers	Muscle Satellite Cultured Cells	--
2	chr2:85988600-86000000	Enhancers	Right Atrium	heart
3	chr2:85990800-85999800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr2:85991000-85997600	Genic enhancers	Lung	lung
5	chr2:85991000-85997800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:85991200-86000000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr2:85993400-85998200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:85993400-86000000	Enhancers	Psoas Muscle	Psoas
9	chr2:85993800-85998000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:85994000-85998600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:85994000-86000400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:85994200-86000000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:85994400-85998600	Genic enhancers	Fetal Lung	lung
14	chr2:85994400-85999000	Enhancers	Left Ventricle	heart
15	chr2:85994800-85998800	Enhancers	HSMMtube	muscle
16	chr2:85994800-86002200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:85995000-85997800	Genic enhancers	Fetal Stomach	stomach
18	chr2:85995000-85998800	Enhancers	Brain Hippocampus Middle	brain
19	chr2:85995000-85999000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:85995000-85999000	Enhancers	Colonic Mucosa	Colon
21	chr2:85995200-85997600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr2:85995200-85998200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr2:85995200-85998400	Enhancers	Spleen	Spleen
24	chr2:85995200-85999000	Enhancers	Fetal Muscle Leg	muscle
25	chr2:85995200-85999200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:85995200-85999800	Enhancers	NHDF-Ad	bronchial
27	chr2:85995200-86000600	Enhancers	Pancreas	Pancrea
28	chr2:85995400-85997800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:85995400-85998000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:85995400-85998000	Genic enhancers	Fetal Intestine Small	intestine
31	chr2:85995400-85998000	Enhancers	Rectal Smooth Muscle	rectum
32	chr2:85995400-85999000	Enhancers	Brain Germinal Matrix	brain
33	chr2:85995600-85997600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:85995600-85997600	Enhancers	Fetal Kidney	kidney
35	chr2:85995600-85997800	Enhancers	Placenta	Placenta
36	chr2:85995600-85998600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr2:85995600-85998800	Enhancers	Brain Angular Gyrus	brain
38	chr2:85995600-85998800	Enhancers	NH-A	brain
39	chr2:85995600-85998800	Enhancers	Osteobl	bone
40	chr2:85995600-85999800	Enhancers	HUVEC	blood vessel
41	chr2:85995600-86000000	Enhancers	Ovary	ovary
42	chr2:85995600-86002200	Enhancers	Liver	Liver
43	chr2:85995800-85998600	Enhancers	Adipose Nuclei	Adipose
44	chr2:85995800-86000200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr2:85995800-86001600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:85995800-86002000	Enhancers	Fetal Brain Male	brain
47	chr2:85996000-85997800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:85996000-85998400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:85996000-85998400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:85996000-85998600	Weak transcription	Esophagus	oesophagus

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