Variant report

Variant	rs12110543
Chromosome Location	chr6:107082670-107082671
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:107075983..107079647-chr6:107080838..107082995,5	MCF-7	breast:
2	chr6:107052469..107054471-chr6:107081133..107083862,2	MCF-7	breast:
3	chr6:107081802..107084758-chr6:107086846..107089181,2	K562	blood:

Variant related genes	Relation type
ENSG00000130348	Chromatin interaction
ENSG00000130347	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10499045	0.80[ASW][hapmap];0.93[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12111259	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12660628	0.83[JPT][hapmap]
rs12663879	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1824619	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2035152	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2035153	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[YRI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2035154	0.80[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs2035155	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2353040	0.87[ASN][1000 genomes]
rs3747791	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747792	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804343	0.83[JPT][hapmap]
rs4946769	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4946771	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4946772	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4946773	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs59238907	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6568446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6900830	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6900886	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6905061	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905519	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6906495	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6914497	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs6916265	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6919395	0.80[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6923868	0.80[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6925367	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6925512	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6933064	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72613231	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72613232	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72613233	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72613234	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72613235	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72613236	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72613237	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72613238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72613241	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7454323	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7748400	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7759021	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9372137	0.87[ASN][1000 genomes]
rs9373881	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:107078000-107084800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:107078000-107090000	Weak transcription	Aorta	Aorta
3	chr6:107078200-107084800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:107078400-107085000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:107078400-107090400	Weak transcription	HSMMtube	muscle
6	chr6:107078600-107084400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:107078600-107084400	Weak transcription	Left Ventricle	heart
8	chr6:107078600-107084400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:107078600-107084600	Weak transcription	Adipose Nuclei	Adipose
10	chr6:107078600-107084800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:107078600-107084800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:107078600-107084800	Weak transcription	Fetal Thymus	thymus
13	chr6:107078600-107084800	Weak transcription	Right Atrium	heart
14	chr6:107078600-107084800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr6:107078600-107084800	Weak transcription	Small Intestine	intestine
16	chr6:107078600-107085000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:107078600-107085000	Weak transcription	Liver	Liver
18	chr6:107078600-107085000	Weak transcription	Thymus	Thymus
19	chr6:107078600-107085200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:107078600-107085400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr6:107078600-107086000	Weak transcription	Primary T cells from cord blood	blood
22	chr6:107078600-107086400	Weak transcription	Psoas Muscle	Psoas
23	chr6:107078600-107086600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:107078600-107086600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr6:107078600-107087400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:107078600-107087800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr6:107078600-107088000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:107078600-107088000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr6:107078600-107088200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:107078600-107089000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:107078600-107089000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr6:107078600-107089400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr6:107078600-107089600	Weak transcription	Fetal Intestine Small	intestine
34	chr6:107078600-107089800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr6:107078600-107090000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr6:107078600-107090000	Weak transcription	Fetal Muscle Leg	muscle
37	chr6:107078600-107090000	Weak transcription	Fetal Stomach	stomach
38	chr6:107078600-107090000	Weak transcription	Right Ventricle	heart
39	chr6:107078600-107090200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:107078600-107090200	Weak transcription	Fetal Intestine Large	intestine
41	chr6:107078600-107090200	Weak transcription	Fetal Lung	lung
42	chr6:107078600-107090200	Weak transcription	Ovary	ovary
43	chr6:107078600-107090400	Weak transcription	Brain Hippocampus Middle	brain
44	chr6:107078600-107090400	Weak transcription	Esophagus	oesophagus
45	chr6:107078600-107090400	Weak transcription	Gastric	stomach
46	chr6:107078600-107090400	Weak transcription	HSMM	muscle
47	chr6:107078600-107090600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr6:107078600-107090600	Weak transcription	Fetal Brain Female	brain
49	chr6:107078600-107092000	Weak transcription	Brain Germinal Matrix	brain
50	chr6:107078600-107092600	Weak transcription	Brain Anterior Caudate	brain

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