Variant report

Variant	rs12692401
Chromosome Location	chr2:10457993-10457994
allele	C/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10453503..10456121-chr2:10457549..10461604,3	MCF-7	breast:
2	chr2:10456900..10460949-chr2:10463282..10467335,5	K562	blood:
3	chr2:10455545..10458163-chr2:10459337..10461641,3	K562	blood:
4	chr2:10446676..10451228-chr2:10454243..10458189,7	K562	blood:
5	chr2:10456473..10458400-chr2:10465360..10466965,2	K562	blood:
6	chr2:10456898..10458578-chr2:10575165..10577020,2	K562	blood:
7	chr2:10269549..10271844-chr2:10457864..10459468,2	MCF-7	breast:
8	chr2:10456837..10459711-chr2:10485939..10487512,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115756	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1861231	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1861232	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2014889	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4081663	0.89[EUR][1000 genomes]
rs6732968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741262	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10446200-10458400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:10447200-10463000	Weak transcription	Thymus	Thymus
3	chr2:10447800-10465400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:10448200-10458600	Weak transcription	Fetal Intestine Large	intestine
5	chr2:10448200-10465400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:10448200-10466200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:10448400-10464400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr2:10448400-10465600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:10448800-10464200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:10449800-10466200	Weak transcription	Right Atrium	heart
11	chr2:10450800-10465600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:10451400-10462800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:10451600-10458600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:10452200-10463800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr2:10452600-10466600	Weak transcription	HSMMtube	muscle
16	chr2:10452800-10458200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr2:10452800-10464200	Weak transcription	Adipose Nuclei	Adipose
18	chr2:10452800-10464400	Weak transcription	Hela-S3	cervix
19	chr2:10453000-10459800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:10453000-10463600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:10453000-10464400	Weak transcription	Brain Substantia Nigra	brain
22	chr2:10453000-10465600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:10453200-10458600	Weak transcription	A549	lung
24	chr2:10453200-10459000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr2:10453200-10459000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:10453200-10459800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:10453200-10460000	Weak transcription	NHEK	skin
28	chr2:10453200-10461200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:10453200-10461800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:10453200-10462400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:10453200-10464200	Weak transcription	Fetal Lung	lung
32	chr2:10453200-10466000	Weak transcription	Esophagus	oesophagus
33	chr2:10453200-10466200	Weak transcription	Fetal Heart	heart
34	chr2:10453200-10469600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:10453400-10462600	Weak transcription	Gastric	stomach
36	chr2:10453400-10462600	Weak transcription	Right Ventricle	heart
37	chr2:10453400-10462600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr2:10453400-10462800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr2:10453600-10460000	Weak transcription	Spleen	Spleen
40	chr2:10453600-10462800	Weak transcription	Pancreas	Pancrea
41	chr2:10453600-10464600	Weak transcription	Primary B cells from cord blood	blood
42	chr2:10453600-10466400	Weak transcription	HSMM	muscle
43	chr2:10454800-10465600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:10455000-10464600	Weak transcription	Fetal Brain Male	brain
45	chr2:10455400-10459400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr2:10455800-10458000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:10456200-10458800	Weak transcription	Primary T cells from cord blood	blood
48	chr2:10456600-10458800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:10456600-10464200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:10456600-10464400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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