Variant report

Variant	rs1203215
Chromosome Location	chr6:75948042-75948043
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:75946301..75951139-chr6:75992372..75997214,5	K562	blood:
2	chr6:75937140..75939759-chr6:75945754..75948396,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225793	Chromatin interaction
ENSG00000112697	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1203210	0.84[EUR][1000 genomes]
rs12176508	0.86[EUR][1000 genomes]
rs1407733	0.94[EUR][1000 genomes]
rs1407734	0.94[EUR][1000 genomes]
rs1474847	0.88[EUR][1000 genomes]
rs171261	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs173274	0.83[EUR][1000 genomes]
rs187067	0.83[EUR][1000 genomes]
rs1967709	0.94[EUR][1000 genomes]
rs1998454	0.90[EUR][1000 genomes]
rs240363	0.94[EUR][1000 genomes]
rs240365	0.94[EUR][1000 genomes]
rs240366	0.94[EUR][1000 genomes]
rs240370	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs240394	0.83[EUR][1000 genomes]
rs240395	0.83[EUR][1000 genomes]
rs240399	0.83[EUR][1000 genomes]
rs240408	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs240411	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs240418	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs240420	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs240421	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs240422	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs240433	0.94[EUR][1000 genomes]
rs3756791	0.90[EUR][1000 genomes]
rs3777510	0.90[EUR][1000 genomes]
rs409536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs415416	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs431116	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs436898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57613317	0.83[ASN][1000 genomes]
rs588691	0.94[EUR][1000 genomes]
rs601846	0.94[EUR][1000 genomes]
rs656182	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73450107	0.83[ASN][1000 genomes]
rs743003	0.94[EUR][1000 genomes]
rs743004	0.90[EUR][1000 genomes]
rs743005	0.94[EUR][1000 genomes]
rs7768671	0.90[EUR][1000 genomes]
rs910523	0.94[EUR][1000 genomes]
rs9293997	0.88[EUR][1000 genomes]
rs9443160	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv463155	chr6:75789526-75980419	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv603762	chr6:75789526-75980419	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
8	nsv603763	chr6:75923605-76009426	Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75934000-75948800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:75934600-75948600	Weak transcription	Pancreas	Pancrea
3	chr6:75940400-75952600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:75941200-75948600	Weak transcription	Esophagus	oesophagus
5	chr6:75941600-75948800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:75943200-75952000	Weak transcription	Psoas Muscle	Psoas
7	chr6:75943600-75948200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:75944000-75950600	Weak transcription	Hela-S3	cervix
9	chr6:75944200-75950800	Weak transcription	NHLF	lung
10	chr6:75944200-75953000	Weak transcription	Stomach Mucosa	stomach
11	chr6:75944400-75950400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:75944400-75952800	Weak transcription	Aorta	Aorta
13	chr6:75944400-75952800	Weak transcription	Brain Angular Gyrus	brain
14	chr6:75944400-75952800	Weak transcription	Ovary	ovary
15	chr6:75944600-75948600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:75945000-75948800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr6:75945200-75948600	Weak transcription	Spleen	Spleen
18	chr6:75945200-75949400	Strong transcription	Primary T cells from cord blood	blood
19	chr6:75945200-75950600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:75945400-75950800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr6:75945400-75951400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:75945400-75951400	Strong transcription	Fetal Thymus	thymus
23	chr6:75945600-75949600	Strong transcription	Brain Cingulate Gyrus	brain
24	chr6:75945600-75949800	Strong transcription	Left Ventricle	heart
25	chr6:75945600-75950000	Strong transcription	HSMM	muscle
26	chr6:75945600-75950400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr6:75945600-75951000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:75945600-75951200	Strong transcription	Primary B cells from cord blood	blood
29	chr6:75945600-75951200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr6:75945600-75951400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:75945600-75952800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr6:75945800-75948600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:75945800-75948600	Weak transcription	Fetal Kidney	kidney
34	chr6:75945800-75949200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:75945800-75949800	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr6:75945800-75950000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr6:75945800-75950000	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr6:75945800-75950200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:75945800-75950200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr6:75945800-75950400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr6:75945800-75950600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr6:75945800-75950800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:75945800-75950800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:75945800-75951000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:75946000-75948200	Weak transcription	Fetal Stomach	stomach
46	chr6:75946000-75948600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr6:75946000-75949000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr6:75946000-75950000	Strong transcription	Fetal Muscle Leg	muscle
49	chr6:75946000-75950200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr6:75946000-75950800	Strong transcription	A549	lung

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