Variant report

Variant	rs6732968
Chromosome Location	chr2:10458782-10458783
allele	A/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	chr2:10452054..10456327-chr2:10458552..10461799,4	K562	blood:
4	chr2:10458406..10461664-chr2:10468208..10470935,3	K562	blood:
5	chr2:10458139..10460990-chr2:10463818..10466904,3	MCF-7	breast:
6	chr2:10458306..10461000-chr2:10462813..10465809,2	MCF-7	breast:
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]
rs12692401	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]
rs1861231	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1861232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2014889	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4081663	0.89[EUR][1000 genomes]
rs741262	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10447200-10463000	Weak transcription	Thymus	Thymus
2	chr2:10447800-10465400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:10448200-10465400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:10448200-10466200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:10448400-10464400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:10448400-10465600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:10448800-10464200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:10449800-10466200	Weak transcription	Right Atrium	heart
9	chr2:10450800-10465600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:10451400-10462800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:10452200-10463800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr2:10452600-10466600	Weak transcription	HSMMtube	muscle
13	chr2:10452800-10464200	Weak transcription	Adipose Nuclei	Adipose
14	chr2:10452800-10464400	Weak transcription	Hela-S3	cervix
15	chr2:10453000-10459800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:10453000-10463600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:10453000-10464400	Weak transcription	Brain Substantia Nigra	brain
18	chr2:10453000-10465600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:10453200-10459000	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:10453200-10459000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:10453200-10459800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:10453200-10460000	Weak transcription	NHEK	skin
23	chr2:10453200-10461200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:10453200-10461800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:10453200-10462400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:10453200-10464200	Weak transcription	Fetal Lung	lung
27	chr2:10453200-10466000	Weak transcription	Esophagus	oesophagus
28	chr2:10453200-10466200	Weak transcription	Fetal Heart	heart
29	chr2:10453200-10469600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:10453400-10462600	Weak transcription	Gastric	stomach
31	chr2:10453400-10462600	Weak transcription	Right Ventricle	heart
32	chr2:10453400-10462600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr2:10453400-10462800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr2:10453600-10460000	Weak transcription	Spleen	Spleen
35	chr2:10453600-10462800	Weak transcription	Pancreas	Pancrea
36	chr2:10453600-10464600	Weak transcription	Primary B cells from cord blood	blood
37	chr2:10453600-10466400	Weak transcription	HSMM	muscle
38	chr2:10454800-10465600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:10455000-10464600	Weak transcription	Fetal Brain Male	brain
40	chr2:10455400-10459400	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr2:10456200-10458800	Weak transcription	Primary T cells from cord blood	blood
42	chr2:10456600-10458800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:10456600-10464200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:10456600-10464400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:10456600-10464400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:10456800-10460000	Weak transcription	Lung	lung
47	chr2:10456800-10464200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:10456800-10464400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:10456800-10464600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:10456800-10466600	Weak transcription	Left Ventricle	heart

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