Variant report

Variant	rs7525250
Chromosome Location	chr1:224398187-224398188
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224371208..224373580-chr1:224396360..224399111,2	K562	blood:

Variant related genes	Relation type
ENSG00000143753	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10799556	1.00[MEX][hapmap]
rs11801211	1.00[MEX][hapmap]
rs11802182	1.00[MEX][hapmap]
rs16846212	1.00[MEX][hapmap]
rs16846293	1.00[MEX][hapmap]
rs16846339	1.00[MEX][hapmap]
rs6695403	0.82[AFR][1000 genomes]
rs7514645	1.00[MEX][hapmap]
rs7531588	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv873223	chr1:224367232-224467117	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224389600-224414400	Weak transcription	Fetal Brain Female	brain
2	chr1:224391600-224400000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:224391600-224400200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:224391600-224407000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:224392600-224400400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:224393400-224399000	Weak transcription	Brain Germinal Matrix	brain
7	chr1:224393600-224398800	Weak transcription	Brain Substantia Nigra	brain
8	chr1:224393600-224398800	Weak transcription	Fetal Kidney	kidney
9	chr1:224393600-224399000	Weak transcription	Brain Anterior Caudate	brain
10	chr1:224393600-224399000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:224393600-224399000	Weak transcription	Psoas Muscle	Psoas
12	chr1:224393600-224399000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:224393600-224399200	Weak transcription	Lung	lung
14	chr1:224393600-224400200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:224393600-224400200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:224393600-224400200	Weak transcription	Gastric	stomach
17	chr1:224393600-224400400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:224393600-224400400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:224393600-224400800	Weak transcription	Right Atrium	heart
20	chr1:224393600-224401200	Weak transcription	Esophagus	oesophagus
21	chr1:224393600-224401200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:224393800-224398600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:224393800-224398800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:224393800-224398800	Weak transcription	Fetal Heart	heart
25	chr1:224393800-224398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:224393800-224398800	Weak transcription	Fetal Lung	lung
27	chr1:224393800-224398800	Weak transcription	Fetal Stomach	stomach
28	chr1:224393800-224399000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:224393800-224399000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:224393800-224399000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:224393800-224399000	Weak transcription	NH-A	brain
32	chr1:224393800-224399200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:224393800-224400200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:224393800-224400200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:224393800-224400200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:224393800-224400200	Weak transcription	HSMMtube	muscle
37	chr1:224393800-224405600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:224393800-224414200	Weak transcription	Colonic Mucosa	Colon
39	chr1:224394000-224398800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr1:224394000-224398800	Weak transcription	A549	lung
41	chr1:224394000-224398800	Weak transcription	NHEK	skin
42	chr1:224394000-224399000	Weak transcription	HUVEC	blood vessel
43	chr1:224394000-224399000	Weak transcription	NHLF	lung
44	chr1:224394000-224399200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:224394000-224399200	Weak transcription	NHDF-Ad	bronchial
46	chr1:224394000-224400800	Weak transcription	HSMM	muscle
47	chr1:224394000-224401200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:224394000-224414000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:224394000-224414600	Weak transcription	HMEC	breast
50	chr1:224394400-224398800	Weak transcription	Rectal Mucosa Donor 29	rectum

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