Variant report

Variant	rs12203363
Chromosome Location	chr6:74362415-74362416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74353596..74359738-chr6:74361541..74364786,8	MCF-7	breast:
2	chr6:74362119..74363006-chr6:74442455..74443360,3	MCF-7	breast:
3	chr6:74351063..74355074-chr6:74360720..74363620,5	K562	blood:
4	chr6:74228702..74232744-chr6:74360665..74366385,13	MCF-7	breast:
5	chr6:74229968..74230929-chr6:74362111..74362922,2	MCF-7	breast:
6	chr6:74220976..74234980-chr6:74352572..74366941,62	K562	blood:
7	chr6:74219718..74234750-chr6:74354945..74369231,56	K562	blood:
8	chr6:74103315..74106293-chr6:74362194..74365078,3	MCF-7	breast:
9	chr6:74228067..74234767-chr6:74357105..74365312,16	MCF-7	breast:
10	chr6:74225088..74225957-chr6:74362036..74362739,2	K562	blood:
11	chr6:74159677..74160348-chr6:74362071..74362615,2	MCF-7	breast:
12	chr6:74354143..74358709-chr6:74361254..74364709,5	MCF-7	breast:
13	chr6:74230161..74230802-chr6:74362026..74362576,2	Hela-S3	cervix:
14	chr6:74234985..74236932-chr6:74360713..74363466,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229862	Chromatin interaction
ENSG00000203907	Chromatin interaction
ENSG00000080007	Chromatin interaction
ENSG00000223967	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000238464	Chromatin interaction
ENSG00000119899	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10455281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10498892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10943112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943113	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943117	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11964414	0.86[ASN][1000 genomes]
rs12189556	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12193002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195068	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195584	0.86[ASN][1000 genomes]
rs12196281	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12197318	0.86[ASN][1000 genomes]
rs12197927	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12210126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210825	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12211279	1.00[ASN][1000 genomes]
rs12212297	0.86[ASN][1000 genomes]
rs12213067	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12213868	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12214877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216092	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13193629	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13202151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13203297	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13207999	1.00[ASN][1000 genomes]
rs13211453	1.00[ASN][1000 genomes]
rs13212809	0.94[CEU][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2351118	1.00[ASN][1000 genomes]
rs2351119	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2351120	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2351121	1.00[ASN][1000 genomes]
rs34342150	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34613232	1.00[ASN][1000 genomes]
rs35256309	0.86[ASN][1000 genomes]
rs35468063	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35584640	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35659919	0.86[ASN][1000 genomes]
rs35733187	1.00[ASN][1000 genomes]
rs36131846	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3734518	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3757109	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3799288	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4708065	1.00[ASN][1000 genomes]
rs56086551	0.84[EUR][1000 genomes]
rs59383274	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62438456	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62440462	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72949387	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744053	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9784805	0.90[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
3	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
6	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
7	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
8	nsv603694	chr6:74275405-74365807	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1029927	chr6:74300496-74424355	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1027691	chr6:74302980-74417450	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	esv3408073	chr6:74362256-74364804	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74314200-74362800	Weak transcription	Stomach Mucosa	stomach
2	chr6:74315600-74362800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:74324600-74362800	Weak transcription	Pancreas	Pancrea
4	chr6:74325400-74362800	Weak transcription	Small Intestine	intestine
5	chr6:74339200-74362800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:74341600-74362800	Weak transcription	Esophagus	oesophagus
7	chr6:74341600-74362800	Weak transcription	Gastric	stomach
8	chr6:74341800-74362600	Weak transcription	Brain Substantia Nigra	brain
9	chr6:74342000-74362800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:74342400-74362800	Weak transcription	Lung	lung
11	chr6:74342400-74362800	Weak transcription	Spleen	Spleen
12	chr6:74343200-74362600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:74347200-74362800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:74349600-74362800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:74350600-74362600	Weak transcription	Fetal Heart	heart
16	chr6:74355600-74362800	Weak transcription	Left Ventricle	heart
17	chr6:74355800-74362600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:74355800-74362600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:74355800-74362600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:74355800-74362600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:74355800-74362600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:74355800-74362600	Weak transcription	Fetal Brain Male	brain
23	chr6:74355800-74362800	Weak transcription	Colonic Mucosa	Colon
24	chr6:74355800-74362800	Weak transcription	Ovary	ovary
25	chr6:74356200-74362600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr6:74357200-74362600	Weak transcription	Aorta	Aorta
27	chr6:74358600-74362600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:74358600-74362600	Weak transcription	HSMM	muscle
29	chr6:74359800-74362600	Weak transcription	Placenta	Placenta
30	chr6:74359800-74362800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:74360400-74362600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:74361000-74362600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:74361600-74362600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr6:74361600-74362600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:74361600-74362600	Enhancers	Liver	Liver
36	chr6:74361800-74362600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr6:74361800-74362600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr6:74361800-74362600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:74361800-74362600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr6:74361800-74363000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:74361800-74363200	Flanking Active TSS	Dnd41	blood
42	chr6:74361800-74364200	Active TSS	NH-A	brain
43	chr6:74361800-74364400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:74361800-74364600	Active TSS	Fetal Intestine Large	intestine
45	chr6:74361800-74364800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:74361800-74364800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:74361800-74364800	Active TSS	K562	blood
48	chr6:74361800-74365200	Active TSS	NHDF-Ad	bronchial
49	chr6:74362000-74362600	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr6:74362000-74362600	Enhancers	Primary B cells from cord blood	blood

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