Variant report

Variant	rs10190680
Chromosome Location	chr2:9902448-9902449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9695083..9696978-chr2:9901909..9904289,2	K562	blood:
2	chr2:9780247..9783706-chr2:9899815..9903353,3	K562	blood:
3	chr2:9901768..9906137-chr2:9907161..9912624,7	K562	blood:
4	chr2:9897830..9899713-chr2:9900837..9903744,2	K562	blood:
5	chr2:9901947..9904351-chr2:9980319..9983166,2	K562	blood:
6	chr2:9893059..9895633-chr2:9899321..9902671,3	K562	blood:
7	chr2:9842465..9843983-chr2:9901077..9903005,2	K562	blood:
8	chr2:9900453..9903358-chr2:9916510..9918074,2	K562	blood:
9	chr2:9769153..9773017-chr2:9899930..9902488,4	K562	blood:
10	chr2:9897831..9899412-chr2:9902196..9904626,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151694	Chromatin interaction
ENSG00000271855	Chromatin interaction
ENSG00000243491	Chromatin interaction
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1004488	1.00[AMR][1000 genomes]
rs10172624	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10188428	1.00[AMR][1000 genomes]
rs10200454	1.00[AMR][1000 genomes]
rs10208526	1.00[AMR][1000 genomes]
rs10469619	1.00[AMR][1000 genomes]
rs16867145	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4327210	1.00[AMR][1000 genomes]
rs6723929	1.00[AMR][1000 genomes]
rs6728922	1.00[AMR][1000 genomes]
rs73913171	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv470443	chr2:9857018-9975557	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1014911	chr2:9863969-9905959	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv873618	chr2:9870631-9919759	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv873619	chr2:9870631-9956981	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv518227	chr2:9893454-9909114	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9895400-9904000	Weak transcription	Hela-S3	cervix
2	chr2:9898600-9903200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:9898600-9903600	Weak transcription	Osteobl	bone
4	chr2:9898600-9904000	Weak transcription	NH-A	brain
5	chr2:9898600-9904400	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:9898600-9905800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:9898600-9906000	Weak transcription	Lung	lung
8	chr2:9898600-9906200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:9898600-9906400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:9898600-9906400	Weak transcription	Placenta	Placenta
11	chr2:9898600-9906800	Enhancers	Fetal Muscle Leg	muscle
12	chr2:9898800-9903000	Weak transcription	Fetal Intestine Small	intestine
13	chr2:9899400-9909200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:9899600-9903200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:9899600-9904800	Weak transcription	Esophagus	oesophagus
16	chr2:9899800-9903200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:9899800-9905200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:9900200-9902600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:9900400-9903600	Weak transcription	A549	lung
20	chr2:9900400-9909400	Weak transcription	Brain Anterior Caudate	brain
21	chr2:9900600-9903000	Weak transcription	Psoas Muscle	Psoas
22	chr2:9900800-9906200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:9901000-9903600	Enhancers	Right Ventricle	heart
24	chr2:9901000-9906000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:9901000-9906000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:9901000-9906000	Weak transcription	HMEC	breast
27	chr2:9901200-9903000	Enhancers	Fetal Muscle Trunk	muscle
28	chr2:9901200-9903000	Weak transcription	Pancreas	Pancrea
29	chr2:9901200-9903800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr2:9901200-9903800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:9901200-9904000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr2:9901200-9905800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:9901200-9905800	Weak transcription	NHEK	skin
34	chr2:9901200-9906800	Enhancers	Fetal Heart	heart
35	chr2:9901400-9903200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr2:9901400-9904000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr2:9901400-9904000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:9901400-9904600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:9901400-9906200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:9901400-9909400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:9901400-9909400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:9901600-9903200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:9901600-9903600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:9901600-9906200	Weak transcription	Fetal Thymus	thymus
45	chr2:9901800-9910200	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:9902000-9906000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:9902200-9903200	Weak transcription	Left Ventricle	heart
48	chr2:9902200-9903200	Weak transcription	Right Atrium	heart
49	chr2:9902200-9903200	Weak transcription	K562	blood
50	chr2:9902200-9905800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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