Variant report

Variant	rs12718263
Chromosome Location	chr7:50353618-50353619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50244968..50246588-chr7:50352625..50355039,2	K562	blood:
2	chr7:50353400..50357230-chr7:50357507..50360612,6	K562	blood:
3	chr7:50353541..50355239-chr7:50366221..50368374,2	K562	blood:
4	chr7:50250013..50252117-chr7:50353490..50355323,2	K562	blood:

Variant related genes	Relation type
ENSG00000185811	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12718255	1.00[AMR][1000 genomes]
rs12718258	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12718259	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12718262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13223971	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13225200	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13238273	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34049075	1.00[AMR][1000 genomes]
rs34175022	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34181857	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34243680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34258132	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34311116	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34484271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34856226	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34861102	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34919759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34920847	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34936043	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34967960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34971464	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35019961	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35042793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35048559	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35064086	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35295940	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35420653	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35456567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35487792	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35661691	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35680007	1.00[AMR][1000 genomes]
rs35803603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35928979	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35946624	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35985210	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs36039109	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6955602	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6962406	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6963347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963656	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6965399	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6979359	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71538375	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71538376	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71538377	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71538378	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71538384	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71538385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781824	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811173	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1024102	chr7:50195864-50418159	Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr7:50347200-50353800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:50347400-50353800	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr7:50348600-50354400	Weak transcription	Spleen	Spleen
4	chr7:50349200-50354200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:50349600-50354400	Weak transcription	Colonic Mucosa	Colon
6	chr7:50349600-50357600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:50352200-50354200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:50352200-50358600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr7:50352400-50354400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:50352600-50354200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:50352600-50354200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:50352600-50354200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:50352600-50354400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:50352600-50354400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:50352600-50354800	Enhancers	K562	blood
16	chr7:50352600-50355200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:50352600-50356000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:50352800-50353800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr7:50352800-50354000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:50352800-50354200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:50352800-50354400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:50352800-50355600	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr7:50353000-50353800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:50353000-50354200	Flanking Active TSS	Thymus	Thymus
25	chr7:50353000-50354400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:50353000-50354400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:50353000-50357200	Genic enhancers	Dnd41	blood
28	chr7:50353200-50354200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:50353400-50354000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:50353400-50354000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:50353400-50354200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr7:50353400-50354200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:50353400-50354200	Genic enhancers	Fetal Thymus	thymus
34	chr7:50353400-50354400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:50353400-50354400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:50353400-50358400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr7:50353600-50354000	Enhancers	Primary T cells fromperipheralblood	blood
38	chr7:50353600-50354000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr7:50353600-50354000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr7:50353600-50354000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr7:50353600-50354000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:50353600-50354000	Enhancers	GM12878-XiMat	blood
43	chr7:50353600-50354200	Enhancers	Primary B cells from cord blood	blood
44	chr7:50353600-50354200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr7:50353600-50354200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:50353600-50354200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr7:50353600-50354400	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr7:50353600-50355400	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr7:50353600-50358400	Enhancers	Primary hematopoietic stem cells	blood

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