Variant report

Variant	rs10956227
Chromosome Location	chr6:56428103-56428104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11988253	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988552	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540972	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12542577	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1397305	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834416	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv885912	chr6:56327849-56458836	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56408200-56440400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:56408200-56440600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:56408200-56496000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:56408400-56430800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:56413800-56458400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:56415800-56435200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:56417000-56516400	Weak transcription	Pancreas	Pancrea
8	chr6:56417200-56462000	Weak transcription	Lung	lung
9	chr6:56417200-56481400	Weak transcription	Esophagus	oesophagus
10	chr6:56417400-56430000	Weak transcription	Fetal Intestine Small	intestine
11	chr6:56417400-56435400	Weak transcription	HepG2	liver
12	chr6:56417800-56430400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:56417800-56454200	Weak transcription	Psoas Muscle	Psoas
14	chr6:56417800-56455400	Weak transcription	Gastric	stomach
15	chr6:56418000-56430200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:56418000-56435400	Weak transcription	Fetal Brain Male	brain
17	chr6:56418200-56430800	Weak transcription	NHLF	lung
18	chr6:56420400-56429400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:56420400-56430200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:56420400-56430800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:56420400-56434800	Weak transcription	Brain Germinal Matrix	brain
22	chr6:56420400-56457400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr6:56420600-56429000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:56420600-56429400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:56420600-56429400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:56420600-56429600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:56420600-56429600	Weak transcription	Left Ventricle	heart
28	chr6:56420600-56429800	Weak transcription	Right Ventricle	heart
29	chr6:56420600-56430000	Weak transcription	Fetal Stomach	stomach
30	chr6:56420600-56430400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:56420600-56433400	Weak transcription	NHEK	skin
32	chr6:56420600-56435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr6:56420600-56435200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr6:56420600-56437600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr6:56420600-56440400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr6:56420600-56454000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr6:56420600-56455400	Weak transcription	Aorta	Aorta
38	chr6:56420800-56429200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr6:56420800-56430400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr6:56420800-56430600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:56420800-56438000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:56421000-56429400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr6:56421000-56430800	Weak transcription	A549	lung
44	chr6:56421000-56431800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:56421000-56432400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr6:56421000-56434600	Weak transcription	Fetal Heart	heart
47	chr6:56421800-56429400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr6:56422000-56434800	Weak transcription	Colon Smooth Muscle	Colon
49	chr6:56423800-56456200	Weak transcription	Brain Substantia Nigra	brain
50	chr6:56424000-56428600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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