Variant report

Variant	rs703661
Chromosome Location	chr12:105056289-105056290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105054843..105056808-chr12:105063463..105065302,2	MCF-7	breast:
2	chr12:105054651..105057049-chr12:105058504..105061225,2	MCF-7	breast:
3	chr12:105056072..105057586-chr12:105059324..105062166,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1863879	1.00[ASW][hapmap];0.84[MEX][hapmap];0.81[AMR][1000 genomes]
rs2694409	1.00[ASW][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes]
rs2694415	1.00[ASW][hapmap];0.86[TSI][hapmap]
rs2695997	1.00[ASW][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes]
rs2695998	1.00[ASW][hapmap];0.82[TSI][hapmap]
rs2695999	1.00[ASW][hapmap];0.82[TSI][hapmap]
rs2696000	1.00[ASW][hapmap];0.82[TSI][hapmap]
rs2696002	0.89[ASW][hapmap];0.82[TSI][hapmap]
rs703662	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs835482	1.00[ASW][hapmap];0.94[CEU][hapmap];0.81[GIH][hapmap];0.84[MEX][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs835483	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs861346	0.87[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs703661	UTP20	cis	parietal	SCAN

Chromatin state (count:54 , 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	chr12:105038600-105057600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:105038600-105061000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:105038600-105061400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:105038600-105062400	Weak transcription	HMEC	breast
8	chr12:105038600-105062800	Weak transcription	Esophagus	oesophagus
9	chr12:105038600-105063200	Weak transcription	Primary T cells from cord blood	blood
10	chr12:105039200-105062200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:105044600-105061600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:105046000-105058200	Weak transcription	Fetal Brain Female	brain
13	chr12:105046200-105061200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:105046400-105061000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:105046800-105060600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:105047600-105060600	Weak transcription	K562	blood
17	chr12:105048000-105062400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:105048600-105058200	Weak transcription	Thymus	Thymus
19	chr12:105049200-105062200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:105051000-105061800	Weak transcription	HSMMtube	muscle
21	chr12:105051000-105065000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:105051600-105060600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:105051800-105062000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:105051800-105062200	Weak transcription	Spleen	Spleen
25	chr12:105051800-105065000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:105052000-105056800	Weak transcription	Fetal Brain Male	brain
27	chr12:105052000-105060600	Weak transcription	Brain Anterior Caudate	brain
28	chr12:105052400-105061200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr12:105052400-105061400	Weak transcription	Lung	lung
30	chr12:105053000-105062200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:105054000-105058600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:105054400-105057800	Strong transcription	Primary B cells from cord blood	blood
33	chr12:105054600-105056800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:105054600-105057600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr12:105054600-105060400	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:105054600-105061200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:105054600-105061800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr12:105055000-105060200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr12:105055200-105061400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr12:105055400-105060400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr12:105055400-105062600	Genic enhancers	Dnd41	blood
42	chr12:105055600-105056800	Weak transcription	Right Atrium	heart
43	chr12:105055600-105057000	Enhancers	Hela-S3	cervix
44	chr12:105055600-105061400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr12:105055800-105056400	Enhancers	Pancreas	Pancrea
46	chr12:105055800-105056800	Flanking Active TSS	A549	lung
47	chr12:105056000-105056800	Enhancers	Stomach Mucosa	stomach
48	chr12:105056000-105060600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:105056000-105061000	Weak transcription	Gastric	stomach
50	chr12:105056000-105062600	Weak transcription	Small Intestine	intestine

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