Variant report

Variant	rs62449629
Chromosome Location	chr7:27781864-27781865
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	POLR2A	chr7:27781825-27782025	K562	blood:	n/a	n/a
2	CEBPB	chr7:27781862-27782156	K562	blood:	n/a	chr7:27782037-27782048
3	NR3C1	chr7:27781797-27782278	A549	lung:	n/a	n/a
4	CEBPB	chr7:27781862-27782238	K562	blood:	n/a	chr7:27782037-27782048
5	MAX	chr7:27781840-27782167	K562	blood:	n/a	chr7:27782077-27782087
6	CEBPB	chr7:27781809-27782214	K562	blood:	n/a	chr7:27782037-27782048
7	MYC	chr7:27781862-27782260	MCF10A-Er-Src	breast:	n/a	chr7:27782077-27782087
8	MAX	chr7:27781722-27782262	NB4	blood:	n/a	chr7:27782077-27782087

No.	Distal block	Cell Line	Cell type
1	chr7:27699948..27706867-chr7:27775418..27784557,21	K562	blood:
2	chr7:27700432..27708426-chr7:27777901..27782637,20	K562	blood:
3	chr7:27777249..27781364-chr7:27781538..27788730,11	MCF-7	breast:
4	chr7:27780417..27784283-chr7:27794073..27796581,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229893	TF binding region
ENSG00000106049	Chromatin interaction
ENSG00000229893	Chromatin interaction
ENSG00000106052	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10155851	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10225487	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10267854	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10277437	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10486559	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10951184	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12666082	0.83[EUR][1000 genomes]
rs16874364	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17150563	0.84[EUR][1000 genomes]
rs17155702	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2051830	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2074579	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2074769	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2107413	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2108309	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2158388	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2237339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237340	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2237341	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2285931	0.83[EUR][1000 genomes]
rs2299106	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2391488	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3779473	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4719907	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4719908	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4722741	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57932688	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58314651	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62449639	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62449640	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62454806	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62454945	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6462048	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6462049	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6462052	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6462053	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6944251	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6944913	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6971813	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6972821	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72598505	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7784038	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7801301	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7803019	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7803227	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7809735	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27778600-27782200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:27779200-27782200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:27780600-27784600	Weak transcription	Spleen	Spleen
4	chr7:27780800-27784600	Weak transcription	Left Ventricle	heart
5	chr7:27780800-27788800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:27780800-27789400	Weak transcription	Lung	lung
7	chr7:27780800-27796400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:27780800-27805600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:27780800-27810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:27780800-27815200	Weak transcription	Gastric	stomach
11	chr7:27781000-27782200	Weak transcription	Small Intestine	intestine
12	chr7:27781000-27782400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr7:27781000-27783200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr7:27781000-27784000	Weak transcription	HUVEC	blood vessel
15	chr7:27781000-27784200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:27781000-27784200	Weak transcription	NH-A	brain
17	chr7:27781000-27784400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:27781000-27784600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:27781000-27784600	Weak transcription	Brain Substantia Nigra	brain
20	chr7:27781000-27784600	Weak transcription	Colonic Mucosa	Colon
21	chr7:27781000-27784600	Weak transcription	Ovary	ovary
22	chr7:27781000-27789000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:27781000-27800200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
25	chr7:27781200-27782000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:27781200-27782000	Enhancers	Brain Cingulate Gyrus	brain
27	chr7:27781200-27782000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr7:27781200-27782200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:27781200-27782200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:27781200-27782200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr7:27781200-27782200	Weak transcription	HepG2	liver
32	chr7:27781200-27782200	Weak transcription	K562	blood
33	chr7:27781200-27782200	Weak transcription	NHDF-Ad	bronchial
34	chr7:27781200-27782400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:27781200-27782400	Weak transcription	Fetal Intestine Small	intestine
36	chr7:27781200-27782400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:27781200-27782400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:27781200-27782400	Weak transcription	A549	lung
39	chr7:27781200-27782800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:27781200-27783000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr7:27781200-27783000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr7:27781200-27783200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr7:27781200-27784200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:27781200-27784200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:27781200-27784200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr7:27781200-27784200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:27781200-27784200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr7:27781200-27784200	Weak transcription	Fetal Intestine Large	intestine
49	chr7:27781200-27784200	Weak transcription	Stomach Mucosa	stomach
50	chr7:27781200-27784200	Weak transcription	Dnd41	blood

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