Variant report

Variant	rs1861231
Chromosome Location	chr2:10455625-10455626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10452054..10456327-chr2:10458552..10461799,4	K562	blood:
2	chr2:10455545..10458163-chr2:10459337..10461641,3	K562	blood:
3	chr2:10446676..10451228-chr2:10454243..10458189,7	K562	blood:
4	chr2:10453503..10456121-chr2:10457549..10461604,3	MCF-7	breast:

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

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

rs_ID	r²[population]
rs12692401	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1861232	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2014889	0.97[EUR][1000 genomes]
rs4081663	0.90[EUR][1000 genomes]
rs6732968	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741262	0.96[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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10445800-10456400	Weak transcription	NHDF-Ad	bronchial
2	chr2:10446200-10458400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:10447200-10463000	Weak transcription	Thymus	Thymus
4	chr2:10447800-10465400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:10448200-10455800	Weak transcription	Left Ventricle	heart
6	chr2:10448200-10456200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:10448200-10456400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:10448200-10458600	Weak transcription	Fetal Intestine Large	intestine
9	chr2:10448200-10465400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:10448200-10466200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:10448400-10455800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr2:10448400-10464400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr2:10448400-10465600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:10448800-10464200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:10449800-10466200	Weak transcription	Right Atrium	heart
16	chr2:10450800-10465600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:10451000-10455800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:10451400-10462800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:10451600-10458600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:10452200-10456000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:10452200-10463800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:10452600-10456600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:10452600-10466600	Weak transcription	HSMMtube	muscle
24	chr2:10452800-10458200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr2:10452800-10464200	Weak transcription	Adipose Nuclei	Adipose
26	chr2:10452800-10464400	Weak transcription	Hela-S3	cervix
27	chr2:10453000-10456200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:10453000-10456200	Weak transcription	NH-A	brain
29	chr2:10453000-10456400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:10453000-10456600	Weak transcription	Brain Angular Gyrus	brain
31	chr2:10453000-10459800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:10453000-10463600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr2:10453000-10464400	Weak transcription	Brain Substantia Nigra	brain
34	chr2:10453000-10465600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:10453200-10456000	Weak transcription	Lung	lung
36	chr2:10453200-10456200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:10453200-10456200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:10453200-10456200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:10453200-10456200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:10453200-10456200	Weak transcription	Osteobl	bone
41	chr2:10453200-10456400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:10453200-10457000	Weak transcription	Liver	Liver
43	chr2:10453200-10457000	Weak transcription	HMEC	breast
44	chr2:10453200-10458600	Weak transcription	A549	lung
45	chr2:10453200-10459000	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr2:10453200-10459000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:10453200-10459800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:10453200-10460000	Weak transcription	NHEK	skin
49	chr2:10453200-10461200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:10453200-10461800	Weak transcription	Duodenum Mucosa	Duodenum

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