Variant report

Variant	rs11274050
Chromosome Location	chr1:175163274-175163275
allele	-/A/ATTTATTTATTT
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	chr1:175160620-175163581	MCF10A-Er-Src	breast:	n/a	n/a
2	ZC3H11A	chr1:175162996-175163414	K562	blood:	n/a	n/a
3	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
4	CTCF	chr1:175163260-175163410	HMEC	breast:	n/a	n/a

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: 3 )
Associated
traits (count: 0)

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	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
3	nsv150410	chr1:175163271-175163274	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175162200-175166400	Weak transcription	Spleen	Spleen
2	chr1:175162400-175168000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:175162600-175163800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:175162600-175163800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr1:175162600-175164000	Enhancers	NHEK	skin
6	chr1:175162600-175164200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:175162600-175164600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:175162600-175164600	Enhancers	GM12878-XiMat	blood
9	chr1:175162600-175166400	Weak transcription	Primary T cells from cord blood	blood
10	chr1:175162600-175166400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:175162600-175166600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:175162600-175167800	Enhancers	Primary B cells from peripheral blood	blood
13	chr1:175162600-175168000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:175162600-175168400	Enhancers	HMEC	breast
15	chr1:175162600-175169200	Weak transcription	Right Atrium	heart
16	chr1:175162600-175169400	Weak transcription	NHLF	lung
17	chr1:175162600-175178000	Weak transcription	Psoas Muscle	Psoas
18	chr1:175162800-175164600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr1:175162800-175166200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:175162800-175166200	Weak transcription	HUVEC	blood vessel
21	chr1:175162800-175166400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:175162800-175166400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:175162800-175166400	Weak transcription	Thymus	Thymus
24	chr1:175162800-175166600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:175162800-175166600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:175162800-175166800	Enhancers	Primary B cells from cord blood	blood
27	chr1:175162800-175168000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:175162800-175169400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:175163000-175163600	Enhancers	Small Intestine	intestine
30	chr1:175163000-175166200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:175163000-175166200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:175163000-175166400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:175163000-175166400	Weak transcription	Adipose Nuclei	Adipose
34	chr1:175163000-175166400	Weak transcription	Esophagus	oesophagus
35	chr1:175163000-175166400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:175163000-175166600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:175163000-175168000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr1:175163000-175168800	Weak transcription	Fetal Stomach	stomach
39	chr1:175163000-175168800	Weak transcription	Lung	lung
40	chr1:175163000-175173800	Weak transcription	Colonic Mucosa	Colon
41	chr1:175163200-175163600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr1:175163200-175163800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr1:175163200-175163800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:175163200-175166200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:175163200-175166200	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:175163200-175166200	Weak transcription	Placenta	Placenta
47	chr1:175163200-175166200	Weak transcription	Hela-S3	cervix
48	chr1:175163200-175166400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr1:175163200-175166400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:175163200-175166400	Weak transcription	Fetal Thymus	thymus

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