Variant report

Variant	rs2336001
Chromosome Location	chr12:64204451-64204452
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	chr12:64199105..64201033-chr12:64202954..64205602,2	K562	blood:
2	chr12:64203594..64206591-chr12:64207815..64211076,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11175173	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12315288	1.00[CEU][hapmap]
rs12422679	1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12426316	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17099839	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1876465	1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs6581505	1.00[CEU][hapmap]
rs7304055	1.00[CEU][hapmap]
rs7312734	1.00[CEU][hapmap]
rs7967092	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv746	chr12:64189444-64234966	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64174400-64204800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:64174800-64208000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:64174800-64208000	Weak transcription	Fetal Brain Male	brain
4	chr12:64174800-64208600	Weak transcription	Fetal Brain Female	brain
5	chr12:64175200-64205200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:64175600-64208000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:64178000-64209800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:64178600-64208400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:64181200-64205400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:64182000-64208000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:64182800-64205200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:64184600-64205800	Weak transcription	Fetal Kidney	kidney
13	chr12:64184600-64206000	Weak transcription	Psoas Muscle	Psoas
14	chr12:64185000-64205000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:64185000-64207800	Weak transcription	NH-A	brain
16	chr12:64185200-64207800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:64185600-64206600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:64189400-64215600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:64199200-64207000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:64199400-64206600	Weak transcription	Brain Germinal Matrix	brain
21	chr12:64199800-64205800	Weak transcription	NHLF	lung
22	chr12:64200000-64205200	Weak transcription	HSMM	muscle
23	chr12:64200000-64208800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:64200200-64208200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:64200400-64205000	Weak transcription	Osteobl	bone
26	chr12:64200400-64211800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:64200800-64208000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:64201000-64205000	Weak transcription	HepG2	liver
29	chr12:64201000-64208200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:64201000-64215600	Weak transcription	Gastric	stomach
31	chr12:64201200-64205000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:64201200-64206200	Weak transcription	Fetal Lung	lung
33	chr12:64201200-64207800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:64201400-64208400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:64202000-64205200	Weak transcription	Brain Anterior Caudate	brain
36	chr12:64202000-64205200	Weak transcription	Left Ventricle	heart
37	chr12:64202000-64205400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:64202000-64205800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:64202000-64206000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:64202000-64206200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr12:64202000-64208600	Weak transcription	Fetal Stomach	stomach
42	chr12:64202200-64205200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:64202200-64206000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:64202200-64207200	Weak transcription	Ovary	ovary
45	chr12:64202200-64207600	Weak transcription	GM12878-XiMat	blood
46	chr12:64202200-64207800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:64202200-64208200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:64202200-64215400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:64202600-64205200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr12:64202600-64205200	Weak transcription	Duodenum Mucosa	Duodenum

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