Variant report

Variant	rs2669159
Chromosome Location	chr12:122207030-122207031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122201883..122204367-chr12:122205822..122208200,4	K562	blood:
2	chr12:122203003..122205744-chr12:122206968..122208544,2	K562	blood:
3	chr12:122199720..122201840-chr12:122206766..122209575,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1976656	0.89[EUR][1000 genomes]
rs2669160	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2669161	0.93[EUR][1000 genomes]
rs2669162	0.93[EUR][1000 genomes]
rs2707069	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
4	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122179800-122211000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:122183800-122224400	Weak transcription	Small Intestine	intestine
3	chr12:122184800-122208000	Weak transcription	Colonic Mucosa	Colon
4	chr12:122187000-122207600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:122187000-122208200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:122187400-122213800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:122187400-122213800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:122188400-122207400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:122189200-122210800	Weak transcription	GM12878-XiMat	blood
10	chr12:122189200-122211000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:122190400-122217000	Weak transcription	Esophagus	oesophagus
12	chr12:122193000-122207600	Weak transcription	Liver	Liver
13	chr12:122193000-122211000	Weak transcription	Pancreas	Pancrea
14	chr12:122193200-122211000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:122195000-122211000	Weak transcription	Fetal Thymus	thymus
16	chr12:122195000-122211200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:122195000-122211200	Weak transcription	Thymus	Thymus
18	chr12:122195000-122212600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:122195000-122213800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:122196200-122211000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:122200600-122211000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:122200800-122213800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:122203400-122208600	Weak transcription	Fetal Kidney	kidney
24	chr12:122203400-122209800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
25	chr12:122203600-122208800	Enhancers	Fetal Brain Male	brain
26	chr12:122203800-122211000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:122204000-122207400	Weak transcription	HepG2	liver
28	chr12:122204000-122207800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr12:122204000-122211000	Weak transcription	NHEK	skin
30	chr12:122204200-122207200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:122204200-122207800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr12:122204200-122207800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:122204200-122208000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:122204200-122210800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:122204200-122213400	Weak transcription	Lung	lung
36	chr12:122204400-122207600	Weak transcription	K562	blood
37	chr12:122204600-122209000	Weak transcription	Hela-S3	cervix
38	chr12:122204600-122210800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:122204600-122215400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:122204800-122207200	Enhancers	Fetal Muscle Trunk	muscle
41	chr12:122204800-122207200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr12:122204800-122208000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:122204800-122211000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:122205000-122208200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr12:122205000-122211000	Weak transcription	Primary T cells from cord blood	blood
46	chr12:122205600-122209600	Enhancers	Left Ventricle	heart
47	chr12:122205800-122210000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr12:122205800-122210800	Weak transcription	HSMM	muscle
49	chr12:122206000-122208000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:122206000-122208000	Weak transcription	A549	lung

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