Variant report

Variant	rs12765981
Chromosome Location	chr10:97036247-97036248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr10:97036065-97036615	PBDE	blood:	n/a	n/a
2	USF1	chr10:97036210-97036592	K562	blood:	n/a	n/a
3	NFATC1	chr10:97036151-97036620	GM12878	blood:	n/a	n/a
4	GATA3	chr10:97035342-97036558	SK-N-SH	brain:	n/a	chr10:97035710-97035722
5	POLR2A	chr10:97035994-97036488	GM12892	blood:	n/a	n/a
6	BHLHE40	chr10:97036220-97036605	K562	blood:	n/a	n/a
7	USF1	chr10:97036242-97036604	K562	blood:	n/a	n/a
8	TEAD4	chr10:97036234-97036566	K562	blood:	n/a	n/a
9	STAT5A	chr10:97036236-97036553	GM12878	blood:	n/a	n/a
10	NFIC	chr10:97036213-97036575	GM12878	blood:	n/a	n/a
11	BCL3	chr10:97036118-97036617	GM12878	blood:	n/a	n/a
12	NFATC1	chr10:97036136-97036661	GM12878	blood:	n/a	n/a
13	BCL3	chr10:97036164-97036613	GM12878	blood:	n/a	n/a
14	TAL1	chr10:97036247-97036645	K562	blood:	n/a	n/a
15	STAT5A	chr10:97036137-97036641	GM12878	blood:	n/a	chr10:97036164-97036176
16	RCOR1	chr10:97036226-97036590	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:97030116..97038568-chr10:97046190..97052064,12	MCF-7	breast:
2	chr10:97031784..97034923-chr10:97035763..97037626,3	MCF-7	breast:
3	chr10:97035976..97040217-chr10:97047732..97050873,5	K562	blood:
4	chr10:97036138..97037977-chr10:97055615..97058500,2	K562	blood:
5	chr10:97036003..97038963-chr10:97049234..97050879,2	MCF-7	breast:
6	chr10:97035457..97038031-chr10:97038055..97040397,3	MCF-7	breast:

No data

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

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10509685	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11872	0.85[CHB][hapmap]
rs12769370	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12783709	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17453729	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17453764	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17453855	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17526000	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1854338	0.92[ASN][1000 genomes]
rs2296964	1.00[CHB][hapmap]
rs34976996	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35777379	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35830045	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs45444597	0.92[ASN][1000 genomes]
rs45447693	0.92[ASN][1000 genomes]
rs45493292	0.85[ASN][1000 genomes]
rs45498798	0.85[ASN][1000 genomes]
rs45518536	0.81[ASN][1000 genomes]
rs45533831	0.88[ASN][1000 genomes]
rs45554238	0.85[ASN][1000 genomes]
rs45555036	0.92[ASN][1000 genomes]
rs45562941	0.85[ASN][1000 genomes]
rs45569042	0.81[ASN][1000 genomes]
rs45591738	0.85[ASN][1000 genomes]
rs7912686	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	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

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97021400-97036400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr10:97024800-97049400	Weak transcription	Fetal Kidney	kidney
3	chr10:97028600-97038200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:97029000-97039200	Weak transcription	Fetal Muscle Leg	muscle
5	chr10:97030600-97037800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr10:97031000-97038200	Weak transcription	Fetal Stomach	stomach
7	chr10:97031600-97046600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr10:97032400-97040800	Enhancers	Stomach Mucosa	stomach
9	chr10:97032600-97036400	Enhancers	Liver	Liver
10	chr10:97032600-97041000	Enhancers	Fetal Intestine Large	intestine
11	chr10:97032600-97043600	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr10:97032800-97037600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:97032800-97039200	Enhancers	Duodenum Mucosa	Duodenum
14	chr10:97032800-97042800	Enhancers	Small Intestine	intestine
15	chr10:97033000-97038600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr10:97033000-97039800	Enhancers	K562	blood
17	chr10:97033400-97037000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr10:97033400-97037800	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr10:97033400-97039000	Enhancers	Left Ventricle	heart
20	chr10:97033400-97039400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr10:97033600-97037800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr10:97033600-97037800	Weak transcription	Colon Smooth Muscle	Colon
23	chr10:97033600-97040000	Enhancers	Adipose Nuclei	Adipose
24	chr10:97033800-97037600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr10:97033800-97038000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr10:97033800-97039800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:97033800-97041600	Enhancers	NHLF	lung
28	chr10:97033800-97042400	Enhancers	Osteobl	bone
29	chr10:97034000-97036400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr10:97034000-97036800	Weak transcription	Aorta	Aorta
31	chr10:97034000-97037600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr10:97034000-97037600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr10:97034000-97040600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:97034000-97042000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr10:97034000-97042400	Enhancers	NHDF-Ad	bronchial
36	chr10:97034000-97045000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr10:97034000-97046400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr10:97034200-97038200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr10:97034600-97036400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:97035000-97036400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr10:97035000-97036600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr10:97035000-97036600	Enhancers	NH-A	brain
43	chr10:97035000-97036800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr10:97035000-97036800	Enhancers	Fetal Intestine Small	intestine
45	chr10:97035200-97036400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr10:97035200-97036600	Enhancers	HUVEC	blood vessel
47	chr10:97035400-97036400	Enhancers	HSMMtube	muscle
48	chr10:97035400-97036600	Enhancers	Placenta Amnion	Placenta Amnion
49	chr10:97035400-97036800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr10:97035400-97037800	Enhancers	HSMM	muscle

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