Variant report

Variant	rs11599166
Chromosome Location	chr10:97053404-97053405
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:97052863-97053517	GM12892	blood:	n/a	n/a
2	TAF1	chr10:97052904-97053544	GM12878	blood:	n/a	n/a
3	POLR2A	chr10:97053077-97053455	GM12878	blood:	n/a	n/a
4	RUNX3	chr10:97052512-97053455	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:97053024-97053541	GM12891	blood:	n/a	n/a
6	STAT5A	chr10:97052855-97053615	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:97053010-97053583	GM12891	blood:	n/a	n/a
8	MEF2A	chr10:97052838-97053442	GM12878	blood:	n/a	n/a
9	POLR2A	chr10:97052977-97053589	GM12892	blood:	n/a	n/a
10	MTA3	chr10:97052265-97053817	GM12878	blood:	n/a	n/a
11	NFATC1	chr10:97052853-97053466	GM12878	blood:	n/a	n/a
12	BCLAF1	chr10:97052711-97053466	GM12878	blood:	n/a	n/a
13	BCLAF1	chr10:97052832-97053538	GM12878	blood:	n/a	chr10:97053528-97053537
14	POLR2A	chr10:97052795-97053702	GM12892	blood:	n/a	n/a
15	POLR2A	chr10:97052832-97053832	GM12878	blood:	n/a	n/a
16	SPI1	chr10:97052638-97053591	GM12878	blood:	n/a	n/a
17	MEF2A	chr10:97052834-97053434	GM12878	blood:	n/a	n/a
18	EP300	chr10:97052873-97053611	GM12878	blood:	n/a	n/a
19	POLR2A	chr10:97052977-97053639	GM12891	blood:	n/a	n/a
20	POLR2A	chr10:97052987-97053832	GM12878	blood:	n/a	n/a
21	WRNIP1	chr10:97053234-97053526	GM12878	blood:	n/a	n/a
22	FOXM1	chr10:97052469-97053464	GM12878	blood:	n/a	n/a
23	CEBPB	chr10:97052854-97053611	GM12878	blood:	n/a	n/a
24	PML	chr10:97052839-97053559	GM12878	blood:	n/a	n/a
25	NFIC	chr10:97052451-97053807	GM12878	blood:	n/a	n/a
26	TBL1XR1	chr10:97052875-97053528	GM12878	blood:	n/a	n/a
27	EBF1	chr10:97053004-97053439	GM12878	blood:	n/a	n/a
28	ZNF384	chr10:97052838-97053443	GM12878	blood:	n/a	n/a
29	POLR2A	chr10:97053004-97053641	GM12891	blood:	n/a	n/a
30	POLR2A	chr10:97052996-97053705	GM12892	blood:	n/a	n/a
31	RUNX3	chr10:97052320-97053428	GM12878	blood:	n/a	n/a
32	BHLHE40	chr10:97052865-97053577	GM12878	blood:	n/a	n/a
33	NFIC	chr10:97052732-97053526	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:97051927..97054727-chr10:97113861..97115578,2	K562	blood:
2	chr10:97053251..97055097-chr10:97056727..97058389,2	K562	blood:
3	chr10:97049651..97052657-chr10:97053278..97056357,3	MCF-7	breast:
4	chr10:96975681..96977490-chr10:97052151..97054934,2	K562	blood:
5	chr10:97021192..97022891-chr10:97052326..97054601,2	K562	blood:
6	chr10:97047325..97053107-chr10:97053232..97056483,6	MCF-7	breast:

No data

Variant related genes	Relation type
PDLIM1	TF binding region
ENSG00000107438	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10882577	0.81[CEU][hapmap]
rs601746	1.00[CHD][hapmap]
rs626465	1.00[CHD][hapmap]
rs650243	1.00[CHD][hapmap]
rs680829	1.00[CHD][hapmap]
rs682349	1.00[CHD][hapmap]
rs684203	1.00[CHD][hapmap]
rs7916421	0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs7921287	0.81[CEU][hapmap]

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	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv15160	chr10:96942869-97074756	Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv552021	chr10:97053404-97071334	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97050600-97054600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr10:97051200-97054400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:97051200-97054400	Weak transcription	NHLF	lung
4	chr10:97051200-97054600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:97051200-97054600	Weak transcription	Aorta	Aorta
6	chr10:97051200-97054600	Weak transcription	Liver	Liver
7	chr10:97051200-97054600	Weak transcription	Colon Smooth Muscle	Colon
8	chr10:97051200-97054600	Weak transcription	Lung	lung
9	chr10:97051200-97054600	Weak transcription	Psoas Muscle	Psoas
10	chr10:97051200-97054600	Weak transcription	Right Atrium	heart
11	chr10:97051200-97054800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:97051200-97054800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr10:97051200-97054800	Weak transcription	HSMM	muscle
14	chr10:97051200-97055000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr10:97051200-97056800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr10:97051400-97054200	Weak transcription	HMEC	breast
17	chr10:97051400-97054200	Weak transcription	NHEK	skin
18	chr10:97051400-97054400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr10:97051400-97054400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr10:97051400-97054400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:97051400-97054400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr10:97051400-97054400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr10:97051400-97054400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr10:97051400-97054400	Weak transcription	Colonic Mucosa	Colon
25	chr10:97051400-97054400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr10:97051400-97054400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr10:97051400-97054400	Weak transcription	Osteobl	bone
28	chr10:97051400-97054600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:97051400-97054600	Enhancers	Primary B cells from peripheral blood	blood
30	chr10:97051400-97054600	Weak transcription	Esophagus	oesophagus
31	chr10:97051400-97054600	Weak transcription	Left Ventricle	heart
32	chr10:97051400-97054600	Weak transcription	Pancreas	Pancrea
33	chr10:97051400-97054600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr10:97051400-97054600	Weak transcription	HUVEC	blood vessel
35	chr10:97051600-97054200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr10:97051600-97054400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr10:97051600-97054400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr10:97051600-97054400	Weak transcription	A549	lung
39	chr10:97051600-97054600	Weak transcription	Right Ventricle	heart
40	chr10:97051600-97054600	Weak transcription	NH-A	brain
41	chr10:97051600-97055000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr10:97051800-97054600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr10:97051800-97054600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr10:97051800-97054600	Weak transcription	Fetal Heart	heart
45	chr10:97052000-97054400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:97052000-97054400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr10:97052000-97054400	Weak transcription	HepG2	liver
48	chr10:97052600-97053600	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr10:97052600-97053800	Enhancers	Fetal Intestine Small	intestine
50	chr10:97052600-97054600	Weak transcription	Spleen	Spleen

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