Variant report

Variant	rs11675258
Chromosome Location	chr2:12190915-12190916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:12180693..12182626-chr2:12190865..12193405,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11675302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695831	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11695912	1.00[YRI][hapmap]
rs12998142	1.00[YRI][hapmap]
rs34344432	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41417950	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55824035	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56139916	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58281155	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744880	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72777651	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS 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	26 gene(s)	inside rSNPs	diseases
2	nsv999704	chr2:12153766-12243960	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1005069	chr2:12161023-12242734	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1000696	chr2:12162843-12241022	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12181600-12193200	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:12185600-12191200	Enhancers	Primary B cells from cord blood	blood
3	chr2:12187000-12191800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:12187000-12191800	Enhancers	GM12878-XiMat	blood
5	chr2:12187000-12192000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:12188800-12191200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:12188800-12196000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:12189000-12195000	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:12189000-12196000	Weak transcription	Spleen	Spleen
10	chr2:12189000-12197200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:12189400-12197000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:12189800-12191000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:12189800-12191000	Enhancers	NHLF	lung
14	chr2:12190200-12191200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:12190200-12191200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:12190200-12191200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr2:12190200-12192800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:12190200-12193400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:12190400-12191000	Enhancers	Primary hematopoietic stem cells	blood
20	chr2:12190400-12191000	Bivalent Enhancer	A549	lung
21	chr2:12190400-12191000	Enhancers	Dnd41	blood
22	chr2:12190400-12191000	Enhancers	K562	blood
23	chr2:12190400-12192400	Enhancers	HSMM	muscle
24	chr2:12190400-12192600	Enhancers	Osteobl	bone
25	chr2:12190400-12193400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:12190600-12191000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr2:12190600-12191000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr2:12190600-12191000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:12190800-12191000	Flanking Active TSS	NHDF-Ad	bronchial
30	chr2:12190800-12191800	Weak transcription	HSMMtube	muscle
31	chr2:12190800-12191800	Weak transcription	NH-A	brain
32	chr2:12190800-12192200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:12190800-12194600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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