Variant report

Variant	rs4722738
Chromosome Location	chr7:27782243-27782244
allele	C/T
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	MYC	chr7:27781871-27782260	MCF10A-Er-Src	breast:	n/a	chr7:27782077-27782087
2	POLR2A	chr7:27782113-27782246	K562	blood:	n/a	n/a
3	NR3C1	chr7:27781797-27782278	A549	lung:	n/a	n/a
4	MYC	chr7:27781882-27782251	K562	blood:	n/a	chr7:27782077-27782087
5	MYC	chr7:27781891-27782243	K562	blood:	n/a	chr7:27782077-27782087
6	MYC	chr7:27781862-27782260	MCF10A-Er-Src	breast:	n/a	chr7:27782077-27782087
7	MYC	chr7:27781866-27782297	NB4	blood:	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
ENSG00000106052	Chromatin interaction
ENSG00000229893	Chromatin interaction
ENSG00000106049	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10249314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1029604	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11540483	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1468443	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2158892	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs42090	0.80[AMR][1000 genomes]
rs42114	0.80[AMR][1000 genomes]
rs4719905	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4722731	0.97[EUR][1000 genomes]
rs4722736	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56070801	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60426718	0.90[EUR][1000 genomes]
rs62454911	0.80[AMR][1000 genomes]
rs62454912	0.80[AMR][1000 genomes]
rs62454913	0.80[AMR][1000 genomes]
rs6462044	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6462045	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6960451	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6969516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6970160	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73073375	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73073377	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73073379	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73073380	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73073387	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73073388	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73073393	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075112	0.80[AMR][1000 genomes]
rs73075307	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075310	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075311	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075322	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075325	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075329	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075331	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075354	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075359	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075361	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73075375	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73075378	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73078776	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73078778	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73083352	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73083361	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73083363	0.82[AMR][1000 genomes]
rs73083364	0.82[AMR][1000 genomes]
rs73083371	0.82[AMR][1000 genomes]
rs73083377	0.82[AMR][1000 genomes]
rs73083378	0.82[AMR][1000 genomes]
rs7807729	0.93[AMR][1000 genomes];0.97[EUR][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	chr7:27780600-27784600	Weak transcription	Spleen	Spleen
2	chr7:27780800-27784600	Weak transcription	Left Ventricle	heart
3	chr7:27780800-27788800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:27780800-27789400	Weak transcription	Lung	lung
5	chr7:27780800-27796400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:27780800-27805600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:27780800-27810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:27780800-27815200	Weak transcription	Gastric	stomach
9	chr7:27781000-27782400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr7:27781000-27783200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr7:27781000-27784000	Weak transcription	HUVEC	blood vessel
12	chr7:27781000-27784200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:27781000-27784200	Weak transcription	NH-A	brain
14	chr7:27781000-27784400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:27781000-27784600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:27781000-27784600	Weak transcription	Brain Substantia Nigra	brain
17	chr7:27781000-27784600	Weak transcription	Colonic Mucosa	Colon
18	chr7:27781000-27784600	Weak transcription	Ovary	ovary
19	chr7:27781000-27789000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:27781000-27800200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
22	chr7:27781200-27782400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:27781200-27782400	Weak transcription	Fetal Intestine Small	intestine
24	chr7:27781200-27782400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:27781200-27782400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:27781200-27782400	Weak transcription	A549	lung
27	chr7:27781200-27782800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:27781200-27783000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr7:27781200-27783000	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr7:27781200-27783200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr7:27781200-27784200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:27781200-27784200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:27781200-27784200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr7:27781200-27784200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:27781200-27784200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr7:27781200-27784200	Weak transcription	Fetal Intestine Large	intestine
37	chr7:27781200-27784200	Weak transcription	Stomach Mucosa	stomach
38	chr7:27781200-27784200	Weak transcription	Dnd41	blood
39	chr7:27781200-27784200	Weak transcription	GM12878-XiMat	blood
40	chr7:27781200-27784200	Weak transcription	Hela-S3	cervix
41	chr7:27781200-27784200	Weak transcription	Osteobl	bone
42	chr7:27781200-27784400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr7:27781200-27784400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:27781200-27784400	Weak transcription	Primary T cells from cord blood	blood
45	chr7:27781200-27784400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:27781200-27784400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:27781200-27784400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr7:27781200-27784400	Weak transcription	HSMMtube	muscle
49	chr7:27781200-27784400	Weak transcription	NHLF	lung
50	chr7:27781200-27784600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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