Variant report

Variant	rs12426228
Chromosome Location	chr12:105129713-105129714
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105124334..105127781-chr12:105128206..105132825,4	K562	blood:
2	chr12:105126812..105130545-chr12:105132208..105136882,4	MCF-7	breast:
3	chr12:105129024..105131916-chr12:105135497..105137922,2	K562	blood:
4	chr12:105123345..105125834-chr12:105127329..105130325,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10861274	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10861275	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11112176	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112178	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11112180	0.85[CHB][hapmap]
rs12230941	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17036237	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs17036238	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs17036283	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs2559634	0.90[ASN][1000 genomes]
rs2694420	0.90[ASN][1000 genomes]
rs312154	0.87[CHD][hapmap]
rs312155	0.90[CHB][hapmap];0.95[CHD][hapmap];0.86[ASN][1000 genomes]
rs312163	0.85[CHD][hapmap]
rs312165	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs312166	0.90[CHB][hapmap];0.97[CHD][hapmap];0.89[ASN][1000 genomes]
rs312167	0.90[CHB][hapmap];0.97[CHD][hapmap];0.89[ASN][1000 genomes]
rs312168	0.89[ASN][1000 genomes]
rs312171	0.83[CHD][hapmap]
rs60756405	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105080400-105131800	Weak transcription	NHEK	skin
2	chr12:105115000-105129800	Weak transcription	Fetal Lung	lung
3	chr12:105116000-105131600	Weak transcription	Esophagus	oesophagus
4	chr12:105118400-105131000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:105120200-105130000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:105121400-105129800	Weak transcription	Pancreas	Pancrea
7	chr12:105121800-105130800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:105123400-105136200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:105124000-105134400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:105124400-105130600	Weak transcription	Primary B cells from cord blood	blood
11	chr12:105124600-105131600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:105124800-105129800	Weak transcription	Fetal Intestine Small	intestine
13	chr12:105124800-105133600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:105125000-105136000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:105125200-105137600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:105125200-105137800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr12:105125400-105131600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr12:105125600-105130200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:105125800-105129800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:105125800-105131000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:105126400-105130200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr12:105126400-105133000	Enhancers	Fetal Thymus	thymus
23	chr12:105126400-105134200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:105126400-105134400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:105126400-105135400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:105126800-105129800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:105127000-105137200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr12:105127200-105130800	Weak transcription	Primary T cells from cord blood	blood
29	chr12:105127400-105131000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:105127400-105131600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:105127600-105132600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:105127600-105134400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr12:105127800-105130000	Enhancers	Lung	lung
34	chr12:105127800-105131800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:105128000-105130000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:105128000-105130800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:105128000-105131000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:105128000-105131600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:105128000-105141200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr12:105128200-105132400	Enhancers	Fetal Stomach	stomach
41	chr12:105128200-105133200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:105128200-105135200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr12:105128400-105129800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr12:105128400-105130000	Enhancers	A549	lung
45	chr12:105128400-105131000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:105128400-105131000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:105128400-105131400	Genic enhancers	Dnd41	blood
48	chr12:105128400-105135000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr12:105128600-105130000	Enhancers	NHDF-Ad	bronchial
50	chr12:105128600-105131400	Weak transcription	Brain Hippocampus Middle	brain

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