Variant report

Variant	rs12082712
Chromosome Location	chr1:92021106-92021107
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92020129..92022282-chr1:92031862..92033858,2	K562	blood:
2	chr1:92014689..92016576-chr1:92019750..92022636,2	K562	blood:
3	chr1:92020358..92021894-chr1:92023680..92025944,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12069259	1.00[EUR][1000 genomes]
rs13447567	0.80[AMR][1000 genomes]
rs59574281	1.00[EUR][1000 genomes]
rs7520738	0.80[AMR][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	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92012000-92027400	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr1:92014800-92021400	Weak transcription	Fetal Heart	heart
3	chr1:92014800-92028000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:92015000-92025600	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr1:92015200-92027800	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr1:92016400-92022200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:92016600-92023800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr1:92017000-92021200	Weak transcription	GM12878-XiMat	blood
9	chr1:92017200-92023400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:92017200-92023600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:92018000-92023200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr1:92018200-92023000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:92018200-92027600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:92018400-92021800	Enhancers	Spleen	Spleen
15	chr1:92019200-92021400	Weak transcription	Esophagus	oesophagus
16	chr1:92019200-92022200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:92019200-92022400	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:92019200-92022400	Weak transcription	Lung	lung
19	chr1:92019200-92022800	Weak transcription	Pancreas	Pancrea
20	chr1:92019200-92027000	Weak transcription	Right Atrium	heart
21	chr1:92019200-92035000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:92019400-92024400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:92019400-92030200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:92019800-92021200	Weak transcription	Placenta	Placenta
25	chr1:92019800-92022600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr1:92020000-92022800	Enhancers	Primary T cells from cord blood	blood
27	chr1:92020000-92023000	Enhancers	K562	blood
28	chr1:92020000-92023200	Enhancers	Fetal Thymus	thymus
29	chr1:92020000-92023800	Enhancers	HUVEC	blood vessel
30	chr1:92020200-92022000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:92020200-92022000	Enhancers	NHLF	lung
32	chr1:92020200-92023200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:92020400-92022400	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr1:92020400-92022400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr1:92020400-92022400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:92020400-92022400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr1:92020400-92022800	Enhancers	Primary hematopoietic stem cells	blood
38	chr1:92020400-92024200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:92020600-92021800	Enhancers	Dnd41	blood
40	chr1:92020600-92022400	Enhancers	Adipose Nuclei	Adipose
41	chr1:92020600-92022400	Enhancers	Fetal Stomach	stomach
42	chr1:92020600-92022600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:92020600-92022800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:92020600-92023200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:92020600-92023200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:92020600-92023200	Enhancers	NHDF-Ad	bronchial
47	chr1:92020600-92023400	Enhancers	Osteobl	bone
48	chr1:92020600-92026000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr1:92020800-92021200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:92020800-92021200	Enhancers	HSMM	muscle

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