Variant report

Variant	rs7138394
Chromosome Location	chr12:51713183-51713184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51662271..51665038-chr12:51711816..51714647,2	K562	blood:
2	chr12:51712710..51716828-chr12:51719754..51724043,5	K562	blood:
3	chr12:51712171..51715020-chr12:51716929..51719322,2	MCF-7	breast:
4	chr12:51710356..51713645-chr12:51720668..51723733,3	MCF-7	breast:
5	chr12:51712710..51714894-chr12:51720855..51723845,2	K562	blood:
6	chr12:51662595..51665038-chr12:51711097..51713316,2	K562	blood:
7	chr12:51711614..51713649-chr12:51717595..51720052,2	MCF-7	breast:
8	chr12:51712004..51713863-chr12:51716596..51718189,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110934	Chromatin interaction
ENSG00000170545	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12578771	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12580302	0.93[EUR][1000 genomes]
rs12581282	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17860277	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17860287	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17860296	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17860302	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17860346	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17860364	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17860365	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17860378	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17860380	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17860382	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17860387	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2288367	0.81[EUR][1000 genomes]
rs3858637	0.91[EUR][1000 genomes]
rs55901988	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57484374	0.93[EUR][1000 genomes]
rs58213562	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58673573	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60641385	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60797544	0.94[EUR][1000 genomes]
rs61172662	0.93[EUR][1000 genomes]
rs61380773	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61570206	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61605107	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7308177	0.90[EUR][1000 genomes]
rs7311196	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7312857	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7316221	0.90[EUR][1000 genomes]
rs7316301	0.96[EUR][1000 genomes]
rs7316604	0.90[EUR][1000 genomes]
rs74093810	0.90[EUR][1000 genomes]
rs74093814	0.90[EUR][1000 genomes]
rs74093823	0.93[EUR][1000 genomes]
rs74093827	0.93[EUR][1000 genomes]
rs74093853	0.94[EUR][1000 genomes]
rs7975715	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv469377	chr12:51690751-51733951	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv558877	chr12:51690751-51733951	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51681800-51714200	Weak transcription	Gastric	stomach
2	chr12:51708800-51716600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:51711200-51716800	Enhancers	Placenta	Placenta
4	chr12:51711800-51713200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:51711800-51715200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr12:51711800-51721800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:51712000-51713400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr12:51712000-51713800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:51712000-51714400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:51712000-51717600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr12:51712200-51713200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr12:51712200-51713200	Enhancers	Colonic Mucosa	Colon
13	chr12:51712200-51713200	Enhancers	Esophagus	oesophagus
14	chr12:51712200-51713200	Enhancers	Stomach Mucosa	stomach
15	chr12:51712200-51713400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:51712200-51714800	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr12:51712200-51715600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr12:51712200-51716400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr12:51712400-51713200	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr12:51712400-51713200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:51712400-51713200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr12:51712400-51713200	Flanking Active TSS	Thymus	Thymus
23	chr12:51712400-51713200	Flanking Active TSS	Hela-S3	cervix
24	chr12:51712400-51713400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr12:51712400-51713400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:51712400-51713400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr12:51712400-51713400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:51712400-51713400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:51712400-51713600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr12:51712400-51713600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr12:51712400-51713600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr12:51712400-51713800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr12:51712400-51714600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr12:51712400-51714600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr12:51712400-51716200	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr12:51712400-51717400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:51712600-51713200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr12:51712600-51713200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:51712600-51713200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr12:51712600-51713200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:51712600-51713200	Enhancers	Duodenum Mucosa	Duodenum
42	chr12:51712600-51713200	Enhancers	Spleen	Spleen
43	chr12:51712600-51713200	Flanking Active TSS	Dnd41	blood
44	chr12:51712600-51713400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr12:51712600-51713400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:51712600-51713400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:51712600-51713400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr12:51712600-51713400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:51712600-51713400	Flanking Active TSS	A549	lung
50	chr12:51712600-51713600	Enhancers	HUES48 Cell Line	embryonic stem cell

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