Variant report

Variant	rs17153912
Chromosome Location	chr10:44068825-44068826
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	MXI1	chr10:44068477-44070901	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr10:44068312-44070362	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr10:44068544-44070370	K562	blood:	n/a	n/a
4	JUND	chr10:44068764-44070517	K562	blood:	n/a	chr10:44069655-44069669 chr10:44068787-44068799 chr10:44068926-44068935 chr10:44070162-44070174
5	POLR2A	chr10:44067311-44070325	K562	blood:	n/a	n/a
6	MYC	chr10:44068645-44070379	K562	blood:	n/a	n/a
7	STAT3	chr10:44068814-44068871	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr10:44068596-44070593	Hela-S3	cervix:	n/a	n/a
9	E2F6	chr10:44068809-44070750	K562	blood:	n/a	chr10:44069361-44069371 chr10:44069731-44069740 chr10:44069844-44069853 chr10:44068925-44068934 chr10:44069814-44069824

No.	Distal block	Cell Line	Cell type
1	chr10:44063474..44065679-chr10:44068799..44071087,3	MCF-7	breast:
2	chr10:44051560..44053366-chr10:44067715..44069779,2	MCF-7	breast:
3	chr10:44068167..44069924-chr10:44136851..44139304,2	MCF-7	breast:
4	chr10:44060724..44063218-chr10:44066954..44069931,3	MCF-7	breast:
5	chr10:44068172..44069784-chr10:44100489..44103269,2	K562	blood:
6	chr10:44068620..44071892-chr10:44099602..44104778,6	MCF-7	breast:
7	chr10:43902074..43907022-chr10:44065945..44069589,4	MCF-7	breast:

Variant related genes	Relation type
ZNF239	TF binding region
ENSG00000198298	Chromatin interaction
ENSG00000232004	Chromatin interaction
ENSG00000196793	Chromatin interaction
ENSG00000169813	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17153903	1.00[EUR][1000 genomes]
rs17153908	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7084457	0.93[AFR][1000 genomes]
rs7908842	0.93[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	esv1798523	chr10:44051698-44070754	Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44050400-44069200	Weak transcription	Fetal Thymus	thymus
2	chr10:44053000-44069000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr10:44053000-44069200	Weak transcription	Thymus	Thymus
4	chr10:44053600-44069000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:44053600-44069200	Weak transcription	Left Ventricle	heart
6	chr10:44053800-44069000	Weak transcription	HSMM	muscle
7	chr10:44054200-44069000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:44055000-44069000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr10:44055000-44069000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr10:44055000-44069600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr10:44055400-44070000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr10:44056200-44069000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr10:44056200-44069400	Weak transcription	Gastric	stomach
14	chr10:44058200-44069200	Weak transcription	A549	lung
15	chr10:44059600-44069400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:44059800-44069200	Weak transcription	Pancreas	Pancrea
17	chr10:44063000-44069000	Weak transcription	Liver	Liver
18	chr10:44063200-44069000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr10:44063200-44069200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr10:44063400-44069000	Weak transcription	Adipose Nuclei	Adipose
21	chr10:44063600-44069000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr10:44063600-44069600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr10:44063800-44069400	Weak transcription	Spleen	Spleen
24	chr10:44064000-44069200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr10:44064800-44069200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr10:44064800-44069400	Weak transcription	Lung	lung
27	chr10:44065000-44069400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr10:44065200-44069200	Weak transcription	Aorta	Aorta
29	chr10:44065800-44069200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:44066800-44069400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr10:44067000-44069000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr10:44067000-44069200	Weak transcription	Ovary	ovary
33	chr10:44067200-44069000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr10:44067800-44069400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr10:44067800-44069400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr10:44068000-44069200	Weak transcription	Primary T cells from cord blood	blood
37	chr10:44068200-44069000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr10:44068200-44069000	Transcr. at gene 5' and 3'	K562	blood
39	chr10:44068200-44069200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr10:44068200-44070600	Active TSS	Fetal Kidney	kidney
41	chr10:44068400-44069600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr10:44068600-44069000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr10:44068600-44069000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
44	chr10:44068600-44069000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
45	chr10:44068600-44069000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr10:44068600-44069000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr10:44068600-44069000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr10:44068600-44069000	Enhancers	Brain Angular Gyrus	brain
49	chr10:44068600-44069000	Enhancers	Brain Cingulate Gyrus	brain
50	chr10:44068600-44069000	Enhancers	Brain Hippocampus Middle	brain

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