Variant report

Variant	rs11112176
Chromosome Location	chr12:105119102-105119103
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	chr12:105118825..105122696-chr12:105123025..105128000,6	K562	blood:

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10861274	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10861275	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11112178	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12230941	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12426228	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17036237	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17036238	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17036283	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2559634	0.81[ASN][1000 genomes]
rs2694420	0.81[ASN][1000 genomes]
rs312154	0.89[ASN][1000 genomes]
rs312155	0.81[ASN][1000 genomes]
rs312163	0.89[ASN][1000 genomes]
rs312165	0.81[ASN][1000 genomes]
rs312166	0.81[ASN][1000 genomes]
rs312167	0.81[ASN][1000 genomes]
rs312168	0.81[ASN][1000 genomes]
rs60756405	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105080400-105131800	Weak transcription	NHEK	skin
2	chr12:105106600-105120600	Weak transcription	Pancreas	Pancrea
3	chr12:105110600-105121000	Weak transcription	Gastric	stomach
4	chr12:105113000-105119800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:105114200-105119200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:105114400-105125800	Weak transcription	Fetal Brain Female	brain
7	chr12:105115000-105119800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:105115000-105129800	Weak transcription	Fetal Lung	lung
9	chr12:105115200-105119800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr12:105115200-105121200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:105115200-105122400	Weak transcription	Right Ventricle	heart
12	chr12:105115200-105124400	Weak transcription	Spleen	Spleen
13	chr12:105115200-105124800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:105115200-105129600	Weak transcription	Placenta	Placenta
15	chr12:105115400-105119400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr12:105115400-105128800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:105115600-105120800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:105115600-105121000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr12:105115600-105128400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:105115800-105119800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:105115800-105120800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:105116000-105121000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:105116000-105121200	Weak transcription	Lung	lung
24	chr12:105116000-105125800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:105116000-105131600	Weak transcription	Esophagus	oesophagus
26	chr12:105116200-105126400	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:105116600-105128400	Weak transcription	A549	lung
28	chr12:105116800-105125800	Weak transcription	Primary T cells from cord blood	blood
29	chr12:105116800-105126400	Weak transcription	Brain Germinal Matrix	brain
30	chr12:105117000-105121000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr12:105117000-105121400	Weak transcription	HUVEC	blood vessel
32	chr12:105117000-105123000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:105117000-105123000	Weak transcription	Left Ventricle	heart
34	chr12:105117000-105124000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:105117000-105125800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:105117000-105127000	Strong transcription	Dnd41	blood
37	chr12:105117200-105121200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr12:105117200-105123600	Weak transcription	Primary B cells from cord blood	blood
39	chr12:105117200-105126400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:105117400-105119400	Weak transcription	Fetal Thymus	thymus
41	chr12:105117400-105126400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr12:105117400-105127400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:105117400-105127600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:105117600-105119200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:105117600-105121200	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:105117600-105122400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:105117600-105122400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr12:105117600-105123400	Weak transcription	Fetal Intestine Small	intestine
49	chr12:105117600-105124200	Weak transcription	Fetal Stomach	stomach
50	chr12:105117600-105126600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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