Variant report

Variant	rs12212056
Chromosome Location	chr6:144974504-144974505
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11155367	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11155369	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756963	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12198720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12209795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9497026	0.83[AMR][1000 genomes];0.91[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	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv604822	chr6:144968195-145001887	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144949200-144980200	Weak transcription	Fetal Thymus	thymus
2	chr6:144951000-144974800	Weak transcription	Primary B cells from cord blood	blood
3	chr6:144951200-144974800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:144951600-144975000	Weak transcription	Primary T cells from cord blood	blood
5	chr6:144951800-144977600	Weak transcription	Dnd41	blood
6	chr6:144952600-144974600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:144959600-144974800	Weak transcription	Stomach Mucosa	stomach
8	chr6:144961400-144978600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:144962800-144975000	Weak transcription	Fetal Lung	lung
10	chr6:144962800-144980200	Weak transcription	Ovary	ovary
11	chr6:144965600-144982400	Weak transcription	HSMM	muscle
12	chr6:144967000-144978600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:144967200-144982000	Weak transcription	HSMMtube	muscle
14	chr6:144967800-144980400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:144968200-144975400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:144968200-144982000	Weak transcription	Brain Germinal Matrix	brain
17	chr6:144969400-144978800	Weak transcription	Pancreas	Pancrea
18	chr6:144969600-144974800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr6:144970400-144975000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:144970400-144975000	Weak transcription	Liver	Liver
21	chr6:144970400-144976400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr6:144970600-144975400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:144970600-144976200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:144970800-144975200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:144970800-144975400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr6:144970800-144975600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:144970800-144975800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:144971800-144978800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:144972800-144975200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr6:144973000-144975800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr6:144973200-144975600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr6:144973200-144976600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:144973200-144976600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:144973200-144976800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:144973400-144975200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:144973600-144975200	Weak transcription	Small Intestine	intestine
37	chr6:144973600-144975600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr6:144973600-144978800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr6:144973600-144980400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:144973600-144980400	Weak transcription	Colonic Mucosa	Colon
41	chr6:144973800-144975000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:144973800-144975200	Weak transcription	Fetal Intestine Small	intestine
43	chr6:144973800-144975200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr6:144974000-144975200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr6:144974000-144975200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:144974000-144980200	Weak transcription	Fetal Intestine Large	intestine
47	chr6:144974200-144974600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr6:144974200-144974600	Weak transcription	A549	lung
49	chr6:144974200-144975000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:144974200-144975000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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