Variant report

Variant	rs4335588
Chromosome Location	chr12:51712319-51712320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000170545	Chromatin interaction
ENSG00000110934	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10783431	0.80[EUR][1000 genomes]
rs11169800	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169806	0.82[EUR][1000 genomes]
rs11169813	0.81[EUR][1000 genomes]
rs11612245	0.82[EUR][1000 genomes]
rs12305814	0.82[EUR][1000 genomes]
rs12578771	0.85[ASN][1000 genomes]
rs12580599	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12581282	0.85[ASN][1000 genomes]
rs12814917	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2006749	0.82[EUR][1000 genomes]
rs3847862	0.82[EUR][1000 genomes]
rs4145127	0.82[EUR][1000 genomes]
rs56869579	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58213562	0.85[ASN][1000 genomes]
rs58673573	0.83[ASN][1000 genomes]
rs60641385	0.85[ASN][1000 genomes]
rs60797544	0.81[ASN][1000 genomes]
rs61570206	0.85[ASN][1000 genomes]
rs61605107	0.83[ASN][1000 genomes]
rs7301933	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7309232	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7312857	0.83[ASN][1000 genomes]
rs7316301	0.83[ASN][1000 genomes]
rs934089	0.82[EUR][1000 genomes]
rs9652000	0.89[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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51681800-51714200	Weak transcription	Gastric	stomach
2	chr12:51696600-51712400	Genic enhancers	Primary T cells fromperipheralblood	blood
3	chr12:51698400-51712600	Weak transcription	Spleen	Spleen
4	chr12:51702200-51712400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:51704600-51712600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:51707400-51712400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:51707600-51712600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:51707800-51712600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr12:51708400-51712600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr12:51708800-51712400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:51708800-51716600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:51709400-51712400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr12:51709800-51712400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr12:51710000-51712400	Enhancers	Primary T cells from cord blood	blood
15	chr12:51710600-51712400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr12:51710600-51712400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:51711000-51712800	Enhancers	Primary B cells from peripheral blood	blood
18	chr12:51711200-51712600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:51711200-51716800	Enhancers	Placenta	Placenta
20	chr12:51711400-51712400	Enhancers	Primary B cells from cord blood	blood
21	chr12:51711600-51712400	Genic enhancers	Fetal Thymus	thymus
22	chr12:51711800-51712400	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:51711800-51712400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:51711800-51712400	Enhancers	K562	blood
25	chr12:51711800-51712600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:51711800-51712600	Enhancers	Dnd41	blood
27	chr12:51711800-51712800	Enhancers	HMEC	breast
28	chr12:51711800-51713000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:51711800-51713200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:51711800-51715200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr12:51711800-51721800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:51712000-51713400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr12:51712000-51713800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr12:51712000-51714400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr12:51712000-51717600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr12:51712200-51712400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
37	chr12:51712200-51712400	Enhancers	Thymus	Thymus
38	chr12:51712200-51712400	Enhancers	Hela-S3	cervix
39	chr12:51712200-51712600	Enhancers	A549	lung
40	chr12:51712200-51712800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr12:51712200-51713000	Enhancers	GM12878-XiMat	blood
42	chr12:51712200-51713200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr12:51712200-51713200	Enhancers	Colonic Mucosa	Colon
44	chr12:51712200-51713200	Enhancers	Esophagus	oesophagus
45	chr12:51712200-51713200	Enhancers	Stomach Mucosa	stomach
46	chr12:51712200-51713400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:51712200-51714800	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr12:51712200-51715600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr12:51712200-51716400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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