Variant report

Variant	rs7533443
Chromosome Location	chr1:174972116-174972117
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	MAFK	chr1:174971934-174972282	K562	blood:	n/a	chr1:174972094-174972105 chr1:174972093-174972107
2	ZNF384	chr1:174972045-174972590	K562	blood:	n/a	chr1:174972181-174972189
3	MAFK	chr1:174971986-174972217	HepG2	liver:	n/a	chr1:174972094-174972105 chr1:174972093-174972107
4	MAFF	chr1:174971977-174972247	K562	blood:	n/a	chr1:174972089-174972107
5	IRF1	chr1:174971951-174972190	K562	blood:	n/a	chr1:174972016-174972027
6	MAFK	chr1:174972020-174972156	HepG2	liver:	n/a	chr1:174972094-174972105 chr1:174972093-174972107
7	MAFF	chr1:174971976-174972185	HepG2	liver:	n/a	chr1:174972089-174972107

No.	Distal block	Cell Line	Cell type
1	chr1:174968752..174972930-chr1:174980465..174984788,7	MCF-7	breast:
2	chr1:173835653..173838766-chr1:174968504..174972418,4	K562	blood:
3	chr1:174966465..174968007-chr1:174970965..174973643,2	MCF-7	breast:
4	chr1:174966455..174979047-chr1:174985921..174994239,29	MCF-7	breast:
5	chr1:174968308..174972682-chr1:174973669..174977278,7	MCF-7	breast:
6	chr1:174966903..174971287-chr1:174971534..174977740,10	MCF-7	breast:

Variant related genes	Relation type
CACYBP	TF binding region
ENSG00000206659	Chromatin interaction
ENSG00000120333	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000116161	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7550448	0.81[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001000	chr1:174944208-174978853	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 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	chr1:174969800-174972200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:174969800-174981600	Weak transcription	Gastric	stomach
3	chr1:174970000-174974000	Weak transcription	Left Ventricle	heart
4	chr1:174970000-174977000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:174970000-174977200	Weak transcription	Lung	lung
6	chr1:174970000-174977200	Weak transcription	Pancreas	Pancrea
7	chr1:174970000-174982400	Weak transcription	Esophagus	oesophagus
8	chr1:174970000-174991800	Weak transcription	Stomach Mucosa	stomach
9	chr1:174970200-174973800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:174970200-174976600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:174970200-174977000	Weak transcription	Colonic Mucosa	Colon
12	chr1:174970200-174981200	Weak transcription	Right Ventricle	heart
13	chr1:174970400-174972200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:174970400-174972200	Enhancers	Adipose Nuclei	Adipose
15	chr1:174970400-174972200	Weak transcription	Psoas Muscle	Psoas
16	chr1:174970400-174973000	Enhancers	Liver	Liver
17	chr1:174970400-174973200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:174970400-174973800	Weak transcription	Fetal Intestine Large	intestine
19	chr1:174970400-174976800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:174970400-174977200	Weak transcription	Aorta	Aorta
21	chr1:174970600-174972200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr1:174970600-174972600	Enhancers	Fetal Thymus	thymus
23	chr1:174970600-174973200	Enhancers	Small Intestine	intestine
24	chr1:174970600-174973600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr1:174970600-174974000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:174970600-174977200	Weak transcription	Fetal Stomach	stomach
27	chr1:174970600-174981800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:174970800-174972200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:174970800-174972200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:174970800-174972200	Weak transcription	Ovary	ovary
31	chr1:174970800-174972200	Enhancers	Osteobl	bone
32	chr1:174970800-174972400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:174970800-174972600	Enhancers	Primary T cells from cord blood	blood
34	chr1:174970800-174972600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:174970800-174972600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:174970800-174973000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:174970800-174973200	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr1:174970800-174973200	Enhancers	Fetal Lung	lung
39	chr1:174970800-174973200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr1:174970800-174973400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr1:174970800-174973600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr1:174970800-174973600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:174970800-174973800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:174970800-174973800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:174970800-174973800	Weak transcription	NH-A	brain
46	chr1:174970800-174974200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:174970800-174974200	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:174970800-174974200	Weak transcription	Fetal Brain Female	brain
49	chr1:174970800-174974200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:174970800-174974400	Weak transcription	Rectal Mucosa Donor 29	rectum

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