Variant report

Variant	rs7520700
Chromosome Location	chr1:184544157-184544158
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184542941..184545234-chr1:184556614..184559469,2	K562	blood:
2	chr1:184542941..184545600-chr1:184549233..184551725,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10911611	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16823336	0.83[ASN][1000 genomes]
rs17255321	0.89[ASN][1000 genomes]
rs1832552	0.89[ASN][1000 genomes]
rs2207521	0.89[ASN][1000 genomes]
rs55699645	0.96[ASN][1000 genomes]
rs60220474	0.91[ASN][1000 genomes]
rs7520438	0.93[ASN][1000 genomes]
rs7528356	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak 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	10 gene(s)	inside rSNPs	diseases
3	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking 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	69 gene(s)	inside rSNPs	diseases
4	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184521000-184547400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:184525000-184546000	Weak transcription	Brain Angular Gyrus	brain
3	chr1:184525600-184545600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:184532400-184545800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:184532600-184545600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:184533200-184547400	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:184536000-184545600	Weak transcription	Left Ventricle	heart
8	chr1:184536000-184559000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:184536000-184559000	Weak transcription	NHEK	skin
10	chr1:184536200-184549200	Weak transcription	NHDF-Ad	bronchial
11	chr1:184536600-184545600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:184536800-184545000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:184536800-184559200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:184537200-184545800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:184537200-184559000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:184538000-184559400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:184538400-184544800	Weak transcription	HSMMtube	muscle
18	chr1:184538400-184558000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:184538400-184558000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:184538400-184559000	Weak transcription	Right Atrium	heart
21	chr1:184538600-184549000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:184538800-184548600	Weak transcription	Fetal Intestine Small	intestine
23	chr1:184539000-184545600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:184543000-184545800	Weak transcription	Fetal Stomach	stomach
25	chr1:184543200-184544200	Enhancers	Psoas Muscle	Psoas
26	chr1:184543200-184544600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:184543400-184544400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr1:184543400-184544600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr1:184543400-184544600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:184543400-184544600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr1:184543400-184544600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr1:184543600-184544200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr1:184543600-184544200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:184543600-184544200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:184543600-184544400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr1:184543600-184544400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:184543600-184544400	Enhancers	HSMM	muscle
38	chr1:184543600-184544600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:184543600-184544600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:184543600-184544600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:184543600-184544600	Enhancers	Fetal Lung	lung
42	chr1:184543600-184546200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:184543800-184544200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:184543800-184544200	Enhancers	Fetal Muscle Leg	muscle
45	chr1:184543800-184544200	Enhancers	Small Intestine	intestine
46	chr1:184543800-184544200	Active TSS	Osteobl	bone
47	chr1:184543800-184544400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr1:184543800-184544400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:184544000-184544200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:184544000-184544400	Enhancers	Brain Cingulate Gyrus	brain

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