Variant report

Variant	rs4987101
Chromosome Location	chr10:5139512-5139513
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	TCF12	chr10:5139380-5140368	A549	lung:	n/a	chr10:5140264-5140272
2	FOSL2	chr10:5139395-5140310	A549	lung:	n/a	n/a
3	MAX	chr10:5139399-5140394	A549	lung:	n/a	n/a
4	REST	chr10:5139314-5140310	A549	lung:	n/a	chr10:5140161-5140181

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:5138883..5141588-chr10:5142729..5145007,2	K562	blood:

Variant related genes	Relation type
ENSG00000239142	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs28943576	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34030369	1.00[AMR][1000 genomes]
rs34304688	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34335319	1.00[AMR][1000 genomes]
rs34463109	1.00[AMR][1000 genomes]
rs34668256	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34936429	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35955223	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59967713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61208564	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73598100	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73599947	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73599962	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73603522	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73603573	1.00[AMR][1000 genomes]
rs73603655	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription 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	18 gene(s)	inside rSNPs	diseases
7	nsv466713	chr10:4901798-5319679	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv549881	chr10:4901798-5319679	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv1050246	chr10:4927428-5211318	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv549882	chr10:4943518-5203864	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv2763913	chr10:4961021-5321407	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv1039386	chr10:5008383-5348491	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv1036566	chr10:5037926-5261426	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv549883	chr10:5037926-5275762	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv1047484	chr10:5076258-5261482	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	nsv1036291	chr10:5076258-5456234	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	nsv1042487	chr10:5090313-5196900	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv540463	chr10:5090313-5196900	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv540464	chr10:5108345-5196815	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv540465	chr10:5108345-5261482	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv540466	chr10:5114577-5196815	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	nsv540467	chr10:5114577-5225365	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv540468	chr10:5114577-5261482	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
25	nsv540469	chr10:5120774-5225365	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv540470	chr10:5120774-5261482	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
27	nsv540471	chr10:5133561-5261482	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
28	nsv540472	chr10:5133561-5284334	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5136400-5140000	Active TSS	Right Atrium	heart
2	chr10:5136600-5147400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:5137000-5141200	Weak transcription	Lung	lung
4	chr10:5137200-5145200	Weak transcription	Esophagus	oesophagus
5	chr10:5137200-5145800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:5137200-5149800	Weak transcription	Small Intestine	intestine
7	chr10:5137400-5149400	Weak transcription	HSMM	muscle
8	chr10:5137400-5149600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr10:5137400-5149600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr10:5137400-5149800	Weak transcription	Pancreas	Pancrea
11	chr10:5137400-5151600	Weak transcription	Brain Angular Gyrus	brain
12	chr10:5137400-5151800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr10:5137400-5152000	Weak transcription	Right Ventricle	heart
14	chr10:5137600-5141600	Weak transcription	Brain Substantia Nigra	brain
15	chr10:5137600-5147800	Weak transcription	HMEC	breast
16	chr10:5137800-5141800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr10:5137800-5150800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr10:5138000-5147200	Transcr. at gene 5' and 3'	A549	lung
19	chr10:5138200-5146800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr10:5138200-5148400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr10:5138200-5151000	Weak transcription	Osteobl	bone
22	chr10:5138200-5151800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr10:5138400-5139600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr10:5138400-5139600	Transcr. at gene 5' and 3'	HepG2	liver
25	chr10:5138400-5140200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:5138400-5141200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:5138600-5139600	Weak transcription	Left Ventricle	heart
28	chr10:5138600-5139600	Weak transcription	HSMMtube	muscle
29	chr10:5138600-5140800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:5138600-5140800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr10:5138600-5140800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:5138600-5142000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr10:5138600-5145000	Weak transcription	Gastric	stomach
34	chr10:5138600-5145200	Weak transcription	Ovary	ovary
35	chr10:5138600-5149200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr10:5138600-5149800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr10:5138600-5150200	Weak transcription	Brain Hippocampus Middle	brain
38	chr10:5138600-5151800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr10:5138800-5139600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr10:5138800-5140000	Weak transcription	Thymus	Thymus
41	chr10:5138800-5140600	Weak transcription	Aorta	Aorta
42	chr10:5138800-5140800	Weak transcription	Stomach Mucosa	stomach
43	chr10:5138800-5141400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr10:5138800-5147800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr10:5138800-5151800	Weak transcription	Brain Anterior Caudate	brain
46	chr10:5138800-5151800	Weak transcription	Colonic Mucosa	Colon
47	chr10:5138800-5152000	Weak transcription	Psoas Muscle	Psoas
48	chr10:5139000-5139600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr10:5139000-5139600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr10:5139000-5140000	Weak transcription	NHDF-Ad	bronchial

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