Variant report

Variant	rs11967747
Chromosome Location	chr6:13426061-13426062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13426005..13428428-chr6:13430205..13432759,2	K562	blood:
2	chr6:13422912..13426230-chr6:13485786..13488463,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187461	Chromatin interaction
ENSG00000237786	Chromatin interaction
ENSG00000145990	Chromatin interaction

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

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

rs_ID	r²[population]
rs10452593	1.00[EUR][1000 genomes]
rs2560766	1.00[EUR][1000 genomes]
rs28854810	1.00[EUR][1000 genomes]
rs57091985	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57343378	1.00[EUR][1000 genomes]
rs57461916	1.00[EUR][1000 genomes]
rs58064210	1.00[EUR][1000 genomes]
rs58327896	1.00[EUR][1000 genomes]
rs58379964	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58519606	1.00[EUR][1000 genomes]
rs58726900	1.00[EUR][1000 genomes]
rs60136918	1.00[EUR][1000 genomes]
rs60607722	1.00[EUR][1000 genomes]
rs61376161	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6458823	1.00[EUR][1000 genomes]
rs6910375	1.00[EUR][1000 genomes]
rs73356408	1.00[EUR][1000 genomes]
rs73356416	1.00[EUR][1000 genomes]
rs73356419	1.00[EUR][1000 genomes]
rs73356424	1.00[EUR][1000 genomes]
rs73356428	1.00[EUR][1000 genomes]
rs73356430	1.00[EUR][1000 genomes]
rs73356433	1.00[EUR][1000 genomes]
rs73356438	1.00[EUR][1000 genomes]
rs73356451	1.00[EUR][1000 genomes]
rs73356458	1.00[EUR][1000 genomes]
rs73356463	1.00[EUR][1000 genomes]
rs73366959	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73366967	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73372840	1.00[EUR][1000 genomes]
rs73372862	1.00[EUR][1000 genomes]
rs73372865	1.00[EUR][1000 genomes]
rs73372868	1.00[EUR][1000 genomes]
rs73372873	1.00[EUR][1000 genomes]
rs73372879	1.00[EUR][1000 genomes]
rs73372889	1.00[EUR][1000 genomes]
rs9370103	1.00[EUR][1000 genomes]
rs9474318	1.00[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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13417800-13427000	Enhancers	Psoas Muscle	Psoas
2	chr6:13419200-13428200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:13419400-13429800	Enhancers	Fetal Lung	lung
4	chr6:13420200-13427600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr6:13420200-13430000	Enhancers	Fetal Stomach	stomach
6	chr6:13420400-13427400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:13420600-13428000	Weak transcription	Thymus	Thymus
8	chr6:13421000-13427200	Weak transcription	Primary B cells from cord blood	blood
9	chr6:13421200-13426400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr6:13421400-13426600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr6:13421400-13427800	Weak transcription	Primary T cells from cord blood	blood
12	chr6:13422000-13427800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:13422000-13428600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:13422200-13432800	Weak transcription	NHDF-Ad	bronchial
15	chr6:13422800-13426400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:13423200-13427600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr6:13423400-13426200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:13423400-13426400	Weak transcription	Gastric	stomach
19	chr6:13423400-13427400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:13423400-13427800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:13423400-13428000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:13423400-13428200	Weak transcription	K562	blood
23	chr6:13423400-13428800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr6:13423400-13428800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:13423400-13432200	Weak transcription	A549	lung
26	chr6:13423600-13426200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:13423800-13426200	Weak transcription	HMEC	breast
28	chr6:13423800-13426600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr6:13423800-13428000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:13423800-13428000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:13423800-13428800	Weak transcription	Fetal Brain Female	brain
32	chr6:13423800-13431400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr6:13423800-13431400	Weak transcription	Brain Germinal Matrix	brain
34	chr6:13423800-13433000	Weak transcription	Pancreas	Pancrea
35	chr6:13424000-13426200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:13424000-13426200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr6:13424000-13426200	Weak transcription	Brain Anterior Caudate	brain
38	chr6:13424000-13426200	Weak transcription	Fetal Thymus	thymus
39	chr6:13424000-13426200	Weak transcription	Spleen	Spleen
40	chr6:13424000-13426200	Weak transcription	Osteobl	bone
41	chr6:13424000-13426400	Weak transcription	Esophagus	oesophagus
42	chr6:13424000-13427600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:13424000-13427800	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr6:13424000-13428000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:13424000-13428000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr6:13424000-13428000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr6:13424000-13428200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:13424000-13428400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr6:13424000-13428800	Enhancers	Stomach Smooth Muscle	stomach
50	chr6:13424000-13429000	Weak transcription	Aorta	Aorta

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