Variant report

Variant	rs835488
Chromosome Location	chr12:105061008-105061009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105054651..105057049-chr12:105058504..105061225,2	MCF-7	breast:
2	chr12:105058711..105060568-chr12:105060873..105063614,2	K562	blood:
3	chr12:105060606..105063528-chr12:105064614..105066569,2	K562	blood:
4	chr12:105053331..105055991-chr12:105057924..105061731,3	K562	blood:
5	chr12:105056072..105057586-chr12:105059324..105062166,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs835486	0.87[CEU][hapmap]
rs835487	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs835490	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs835491	0.92[CEU][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs835492	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs835493	0.96[EUR][1000 genomes];0.94[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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105038000-105062000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:105038400-105061200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:105038400-105062600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:105038600-105061400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:105038600-105062400	Weak transcription	HMEC	breast
6	chr12:105038600-105062800	Weak transcription	Esophagus	oesophagus
7	chr12:105038600-105063200	Weak transcription	Primary T cells from cord blood	blood
8	chr12:105039200-105062200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:105044600-105061600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:105046200-105061200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:105048000-105062400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:105049200-105062200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:105051000-105061800	Weak transcription	HSMMtube	muscle
14	chr12:105051000-105065000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:105051800-105062000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:105051800-105062200	Weak transcription	Spleen	Spleen
17	chr12:105051800-105065000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:105052400-105061200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:105052400-105061400	Weak transcription	Lung	lung
20	chr12:105053000-105062200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:105054600-105061200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:105054600-105061800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:105055200-105061400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr12:105055400-105062600	Genic enhancers	Dnd41	blood
25	chr12:105055600-105061400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr12:105056000-105062600	Weak transcription	Small Intestine	intestine
27	chr12:105056200-105061200	Weak transcription	Right Ventricle	heart
28	chr12:105056200-105062400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:105057800-105061200	Weak transcription	Primary B cells from cord blood	blood
30	chr12:105057800-105063000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:105058000-105063200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:105058400-105061400	Weak transcription	Thymus	Thymus
33	chr12:105058400-105062800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:105059000-105061200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:105059000-105061600	Weak transcription	Fetal Brain Male	brain
36	chr12:105059200-105063200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr12:105059400-105062200	Weak transcription	GM12878-XiMat	blood
38	chr12:105059600-105063000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:105060200-105061400	Enhancers	Stomach Smooth Muscle	stomach
40	chr12:105060200-105062000	Enhancers	Colon Smooth Muscle	Colon
41	chr12:105060200-105062400	Weak transcription	NH-A	brain
42	chr12:105060200-105068400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr12:105060400-105061400	Weak transcription	Brain Germinal Matrix	brain
44	chr12:105060400-105061800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:105060400-105062600	Enhancers	Brain Hippocampus Middle	brain
46	chr12:105060400-105063000	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr12:105060400-105063200	Enhancers	Brain Substantia Nigra	brain
48	chr12:105060400-105066800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr12:105060400-105067000	Enhancers	Pancreas	Pancrea
50	chr12:105060600-105061400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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