Variant report

Variant	rs61478963
Chromosome Location	chr10:97007446-97007447
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr10:97006683-97007582	SK-N-SH	brain:	n/a	n/a
2	MEF2A	chr10:97006691-97007584	SK-N-SH	brain:	n/a	n/a
3	EP300	chr10:97006648-97007551	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr10:97007446-97007948	GM12891	blood:	n/a	n/a
5	MAFK	chr10:97007018-97007592	IMR90	lung:	n/a	n/a
6	RAD21	chr10:97006043-97007670	SK-N-SH	brain:	n/a	n/a
7	JUND	chr10:97006741-97007479	SK-N-SH	brain:	n/a	n/a
8	RAD21	chr10:97006140-97007676	IMR90	lung:	n/a	n/a
9	SMC3	chr10:97005898-97007585	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr10:97007415-97008363	GM12892	blood:	n/a	n/a
11	POLR2A	chr10:97007375-97007871	GM12891	blood:	n/a	n/a
12	TCF12	chr10:97006174-97007652	SK-N-SH	brain:	n/a	n/a
13	MEF2A	chr10:97006747-97007593	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr10:97007433-97007883	GM12878	blood:	n/a	n/a
15	MAZ	chr10:97005719-97008395	IMR90	lung:	n/a	n/a
16	JUND	chr10:97006785-97007485	SK-N-SH	brain:	n/a	n/a
17	PBX3	chr10:97006788-97007522	SK-N-SH	brain:	n/a	n/a
18	TCF12	chr10:97006570-97007576	SK-N-SH	brain:	n/a	n/a
19	MXI1	chr10:97006238-97008093	IMR90	lung:	n/a	n/a
20	GATA3	chr10:97006261-97007660	SK-N-SH	brain:	n/a	n/a
21	CEBPB	chr10:97006982-97007698	IMR90	lung:	n/a	n/a
22	POLR2A	chr10:97006318-97007900	IMR90	lung:	n/a	n/a
23	PBX3	chr10:97006841-97007494	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr10:97007342-97008119	GM12892	blood:	n/a	n/a
25	POLR2A	chr10:97006855-97007461	SK-N-SH	brain:	n/a	n/a
26	FOSL2	chr10:97006778-97007518	SK-N-SH	brain:	n/a	n/a
27	TEAD4	chr10:97006805-97007484	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97002381..97008883-chr10:97045266..97052392,13	MCF-7	breast:

No data

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

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1032097	1.00[EUR][1000 genomes]
rs1032098	1.00[EUR][1000 genomes]
rs11572073	1.00[EUR][1000 genomes]
rs11572081	1.00[EUR][1000 genomes]
rs11572089	1.00[EUR][1000 genomes]
rs11572132	1.00[EUR][1000 genomes]
rs11572145	1.00[EUR][1000 genomes]
rs11572148	1.00[EUR][1000 genomes]
rs11572176	1.00[EUR][1000 genomes]
rs11812764	1.00[EUR][1000 genomes]
rs11813834	1.00[EUR][1000 genomes]
rs11814600	1.00[EUR][1000 genomes]
rs11815378	1.00[EUR][1000 genomes]
rs11816316	1.00[EUR][1000 genomes]
rs11816732	1.00[EUR][1000 genomes]
rs11817176	1.00[EUR][1000 genomes]
rs11817388	1.00[EUR][1000 genomes]
rs11818486	1.00[EUR][1000 genomes]
rs11819238	1.00[EUR][1000 genomes]
rs12098304	0.83[AMR][1000 genomes]
rs2094293	1.00[EUR][1000 genomes]
rs2094294	1.00[EUR][1000 genomes]
rs2860950	1.00[EUR][1000 genomes]
rs2860951	1.00[EUR][1000 genomes]
rs45448291	1.00[AMR][1000 genomes]
rs45454292	1.00[EUR][1000 genomes]
rs45487391	1.00[EUR][1000 genomes]
rs45491002	1.00[EUR][1000 genomes]
rs45495404	1.00[EUR][1000 genomes]
rs45620737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55700247	1.00[EUR][1000 genomes]
rs55740007	1.00[EUR][1000 genomes]
rs55786415	1.00[EUR][1000 genomes]
rs55915838	1.00[EUR][1000 genomes]
rs55937167	1.00[EUR][1000 genomes]
rs56094588	1.00[EUR][1000 genomes]
rs56187632	1.00[EUR][1000 genomes]
rs56264187	1.00[EUR][1000 genomes]
rs56412102	1.00[EUR][1000 genomes]
rs56979418	1.00[EUR][1000 genomes]
rs56999073	1.00[EUR][1000 genomes]
rs58894719	1.00[EUR][1000 genomes]
rs59277980	1.00[EUR][1000 genomes]
rs59282006	1.00[EUR][1000 genomes]
rs59329992	1.00[EUR][1000 genomes]
rs59485845	1.00[EUR][1000 genomes]
rs60480656	1.00[EUR][1000 genomes]
rs60916665	1.00[EUR][1000 genomes]
rs61634481	1.00[EUR][1000 genomes]
rs6583982	1.00[EUR][1000 genomes]
rs6583986	1.00[EUR][1000 genomes]
rs7070484	1.00[EUR][1000 genomes]
rs7074994	1.00[EUR][1000 genomes]
rs7078505	1.00[EUR][1000 genomes]
rs7083576	1.00[EUR][1000 genomes]
rs7083837	1.00[EUR][1000 genomes]
rs7084045	1.00[EUR][1000 genomes]
rs7085646	1.00[EUR][1000 genomes]
rs7087494	1.00[EUR][1000 genomes]
rs7088962	1.00[EUR][1000 genomes]
rs7090248	1.00[EUR][1000 genomes]
rs7090669	1.00[EUR][1000 genomes]
rs7090961	1.00[EUR][1000 genomes]
rs7091711	1.00[EUR][1000 genomes]
rs7093626	1.00[EUR][1000 genomes]
rs7100479	1.00[EUR][1000 genomes]
rs74150750	1.00[EUR][1000 genomes]
rs74150764	1.00[EUR][1000 genomes]
rs74150766	1.00[EUR][1000 genomes]
rs74150767	1.00[EUR][1000 genomes]
rs74150768	1.00[EUR][1000 genomes]
rs74150772	1.00[EUR][1000 genomes]
rs74150780	1.00[EUR][1000 genomes]
rs74150781	1.00[EUR][1000 genomes]
rs74150782	1.00[EUR][1000 genomes]
rs74150785	1.00[EUR][1000 genomes]
rs74150786	1.00[EUR][1000 genomes]
rs74150790	1.00[EUR][1000 genomes]
rs74150792	1.00[EUR][1000 genomes]
rs74150793	1.00[EUR][1000 genomes]
rs74150795	1.00[EUR][1000 genomes]
rs7894207	1.00[EUR][1000 genomes]
rs7915255	1.00[EUR][1000 genomes]
rs7918727	1.00[EUR][1000 genomes]
rs7918803	1.00[EUR][1000 genomes]
rs7919415	1.00[EUR][1000 genomes]

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	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	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
3	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96991000-97007600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:96991000-97020400	Weak transcription	Fetal Muscle Leg	muscle
3	chr10:96991000-97024000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:96991400-97019000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:96992200-97009000	Strong transcription	Liver	Liver
6	chr10:96996400-97016000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr10:96996800-97009400	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr10:96998200-97009400	Weak transcription	Small Intestine	intestine
9	chr10:96998400-97030200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr10:96999600-97008600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:96999800-97009000	Strong transcription	Primary B cells from cord blood	blood
12	chr10:97000000-97009400	Strong transcription	Colonic Mucosa	Colon
13	chr10:97000400-97024400	Weak transcription	Fetal Kidney	kidney
14	chr10:97001600-97008800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr10:97001800-97007600	Strong transcription	Lung	lung
16	chr10:97004000-97009200	Strong transcription	Fetal Lung	lung
17	chr10:97004400-97008800	Strong transcription	Fetal Intestine Large	intestine
18	chr10:97004800-97009800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:97005000-97007800	Genic enhancers	Duodenum Mucosa	Duodenum
20	chr10:97005600-97008000	Genic enhancers	Rectal Smooth Muscle	rectum
21	chr10:97005600-97011000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr10:97005600-97011800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr10:97005800-97007600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr10:97005800-97008600	Weak transcription	Psoas Muscle	Psoas
25	chr10:97006200-97007600	Weak transcription	Aorta	Aorta
26	chr10:97006200-97008000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:97006200-97008400	Enhancers	Stomach Smooth Muscle	stomach
28	chr10:97006200-97008800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr10:97006200-97008800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr10:97006200-97011400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
31	chr10:97006200-97017600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr10:97006400-97007800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr10:97006400-97007800	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr10:97006400-97007800	Genic enhancers	A549	lung
35	chr10:97006400-97008000	Enhancers	Placenta	Placenta
36	chr10:97006400-97008200	Enhancers	Osteobl	bone
37	chr10:97006400-97008400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr10:97006400-97008400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr10:97006400-97008400	Enhancers	Right Ventricle	heart
40	chr10:97006400-97008600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:97006400-97008600	Enhancers	HSMM	muscle
42	chr10:97006400-97008800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr10:97006400-97009600	Enhancers	NHDF-Ad	bronchial
44	chr10:97006400-97019600	Weak transcription	K562	blood
45	chr10:97006600-97007800	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr10:97006600-97007800	Flanking Active TSS	NH-A	brain
47	chr10:97006600-97008000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr10:97006600-97008000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr10:97006600-97008000	Enhancers	Colon Smooth Muscle	Colon
50	chr10:97006600-97008000	Enhancers	HSMMtube	muscle

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