Variant report

Variant	rs9326506
Chromosome Location	chr10:44068558-44068559
allele	A/C
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	CEBPB	chr10:44068309-44068570	HepG2	liver:	n/a	chr10:44068410-44068423 chr10:44068410-44068421
3	STAT3	chr10:44068353-44068717	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr10:44068312-44070362	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr10:44068544-44070370	K562	blood:	n/a	n/a
6	POLR2A	chr10:44067311-44070325	K562	blood:	n/a	n/a
7	CEBPB	chr10:44068246-44068615	K562	blood:	n/a	chr10:44068410-44068423 chr10:44068410-44068421
8	CEBPB	chr10:44068275-44068581	A549	lung:	n/a	chr10:44068410-44068423 chr10:44068410-44068421
9	CEBPB	chr10:44068250-44068599	IMR90	lung:	n/a	chr10:44068410-44068423 chr10:44068410-44068421

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

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

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10793442	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10793443	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10899827	0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10899828	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11238585	0.92[ASN][1000 genomes]
rs11238588	0.82[CHB][hapmap];0.94[ASN][1000 genomes]
rs12354445	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12415781	0.82[ASN][1000 genomes]
rs12784891	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1338565	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1832470	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2230660	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2230661	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2393938	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2393939	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2393942	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2393959	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2393960	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2860340	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2999270	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2999271	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2999272	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2999273	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2999274	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2999277	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2999278	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2999279	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2999280	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3006379	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3006380	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3006383	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3006384	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3006385	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3763789	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4948747	0.91[ASN][1000 genomes]
rs6593359	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7078691	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7079328	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7086537	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7089577	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7091995	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7092156	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7101356	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7893169	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7894102	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7897611	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7906129	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7913084	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7915227	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9422385	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9422388	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9422540	1.00[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9422541	1.00[ASW][hapmap];0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9422543	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9422544	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9422545	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.90[MKK][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9422546	1.00[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9422547	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9422549	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9422550	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9422555	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9422557	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][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:106 , 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	chr10:44053200-44068800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:44053200-44068800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:44053200-44068800	Weak transcription	Hela-S3	cervix
7	chr10:44053200-44068800	Weak transcription	HSMMtube	muscle
8	chr10:44053400-44068800	Weak transcription	Brain Substantia Nigra	brain
9	chr10:44053600-44068600	Weak transcription	NH-A	brain
10	chr10:44053600-44068800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr10:44053600-44068800	Weak transcription	Psoas Muscle	Psoas
12	chr10:44053600-44068800	Weak transcription	Right Ventricle	heart
13	chr10:44053600-44069000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr10:44053600-44069200	Weak transcription	Left Ventricle	heart
15	chr10:44053800-44068600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr10:44053800-44068800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr10:44053800-44069000	Weak transcription	HSMM	muscle
18	chr10:44054200-44069000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr10:44055000-44069000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr10:44055000-44069000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr10:44055000-44069600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr10:44055200-44068800	Weak transcription	Fetal Brain Male	brain
23	chr10:44055400-44070000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr10:44056000-44068800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr10:44056200-44069000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr10:44056200-44069400	Weak transcription	Gastric	stomach
27	chr10:44057400-44068600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr10:44058200-44069200	Weak transcription	A549	lung
29	chr10:44059200-44068800	Weak transcription	Small Intestine	intestine
30	chr10:44059600-44069400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr10:44059800-44068800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr10:44059800-44068800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr10:44059800-44069200	Weak transcription	Pancreas	Pancrea
34	chr10:44063000-44069000	Weak transcription	Liver	Liver
35	chr10:44063200-44068600	Weak transcription	Colon Smooth Muscle	Colon
36	chr10:44063200-44069000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr10:44063200-44069200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr10:44063400-44069000	Weak transcription	Adipose Nuclei	Adipose
39	chr10:44063600-44068600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr10:44063600-44068600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr10:44063600-44068800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr10:44063600-44068800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr10:44063600-44068800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr10:44063600-44068800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr10:44063600-44069000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr10:44063600-44069600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr10:44063800-44068800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr10:44063800-44068800	Weak transcription	Fetal Lung	lung
49	chr10:44063800-44068800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr10:44063800-44069400	Weak transcription	Spleen	Spleen

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