Variant report

Variant	rs555071213
Chromosome Location	chr1:175163126-175163127
allele	G/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	USF1	chr1:175163057-175163236	HepG2	liver:	n/a	chr1:175163160-175163171
2	ZNF263	chr1:175160625-175163127	HEK293-T-REx	kidney:	n/a	chr1:175160916-175160925
3	POLR2A	chr1:175160620-175163581	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr1:175161324-175163163	K562	blood:	n/a	n/a
5	ZC3H11A	chr1:175162996-175163414	K562	blood:	n/a	n/a
6	ZEB1	chr1:175162708-175163129	GM12878	blood:	n/a	n/a
7	MYC	chr1:175162381-175163725	MCF10A-Er-Src	breast:	n/a	chr1:175163159-175163172 chr1:175163159-175163172 chr1:175163160-175163170 chr1:175163160-175163171 chr1:175163159-175163172 chr1:175163160-175163171 chr1:175163161-175163170 chr1:175163160-175163170 chr1:175163161-175163170 chr1:175163160-175163171 chr1:175163159-175163172 chr1:175163161-175163171 chr1:175163161-175163170 chr1:175163160-175163169 chr1:175163161-175163171 chr1:175163160-175163171
8	USF1	chr1:175163038-175163236	HepG2	liver:	n/a	chr1:175163160-175163171
9	MAX	chr1:175162907-175163229	K562	blood:	n/a	chr1:175163159-175163172 chr1:175163159-175163172 chr1:175163160-175163170 chr1:175163160-175163171 chr1:175163159-175163172 chr1:175163160-175163171 chr1:175163161-175163170 chr1:175163160-175163170 chr1:175163161-175163170 chr1:175163160-175163171 chr1:175163159-175163172 chr1:175163161-175163171 chr1:175163161-175163170 chr1:175163160-175163169 chr1:175163161-175163171 chr1:175163160-175163171

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175152638..175154572-chr1:175162288..175163836,2	K562	blood:
2	chr1:175162286..175164417-chr1:175190945..175192662,2	MCF-7	breast:

Variant related genes	Relation type
KIAA0040	TF binding region

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

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	nsv949473	chr1:175151666-175391741	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv15667	chr1:175161934-175163375	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175160600-175163200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr1:175162200-175166400	Weak transcription	Spleen	Spleen
3	chr1:175162400-175163200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr1:175162400-175168000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:175162600-175163200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:175162600-175163200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:175162600-175163200	Enhancers	Primary hematopoietic stem cells	blood
8	chr1:175162600-175163200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:175162600-175163200	Enhancers	Fetal Intestine Small	intestine
10	chr1:175162600-175163200	Enhancers	Fetal Muscle Leg	muscle
11	chr1:175162600-175163200	Enhancers	Placenta	Placenta
12	chr1:175162600-175163200	Enhancers	Fetal Thymus	thymus
13	chr1:175162600-175163200	Enhancers	Left Ventricle	heart
14	chr1:175162600-175163200	Enhancers	Pancreas	Pancrea
15	chr1:175162600-175163200	Enhancers	Stomach Mucosa	stomach
16	chr1:175162600-175163800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr1:175162600-175163800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:175162600-175164000	Enhancers	NHEK	skin
19	chr1:175162600-175164200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:175162600-175164600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr1:175162600-175164600	Enhancers	GM12878-XiMat	blood
22	chr1:175162600-175166400	Weak transcription	Primary T cells from cord blood	blood
23	chr1:175162600-175166400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:175162600-175166600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:175162600-175167800	Enhancers	Primary B cells from peripheral blood	blood
26	chr1:175162600-175168000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:175162600-175168400	Enhancers	HMEC	breast
28	chr1:175162600-175169200	Weak transcription	Right Atrium	heart
29	chr1:175162600-175169400	Weak transcription	NHLF	lung
30	chr1:175162600-175178000	Weak transcription	Psoas Muscle	Psoas
31	chr1:175162800-175163200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:175162800-175163200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr1:175162800-175163200	Enhancers	Liver	Liver
34	chr1:175162800-175163200	Enhancers	Fetal Muscle Trunk	muscle
35	chr1:175162800-175163200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr1:175162800-175163200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr1:175162800-175163200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr1:175162800-175164600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr1:175162800-175166200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:175162800-175166200	Weak transcription	HUVEC	blood vessel
41	chr1:175162800-175166400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr1:175162800-175166400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:175162800-175166400	Weak transcription	Thymus	Thymus
44	chr1:175162800-175166600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:175162800-175166600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr1:175162800-175166800	Enhancers	Primary B cells from cord blood	blood
47	chr1:175162800-175168000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:175162800-175169400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:175163000-175163200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:175163000-175163200	Enhancers	Hela-S3	cervix

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