Variant report

Variant	rs12210866
Chromosome Location	chr6:38669927-38669928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38656830..38658689-chr6:38669303..38670813,2	MCF-7	breast:
2	chr6:38606456..38608908-chr6:38667468..38670067,2	MCF-7	breast:
3	chr6:38654394..38655965-chr6:38667989..38670845,2	MCF-7	breast:
4	chr6:38668625..38670754-chr9:86321990..86324896,2	K562	blood:

Variant related genes	Relation type
ENSG00000254473	Chromatin interaction
ENSG00000183826	Chromatin interaction
ENSG00000135018	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12198313	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12202097	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12209475	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12209477	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13200763	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13203767	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17622621	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1937778	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1937780	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs36138100	0.84[AMR][1000 genomes]
rs71571343	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2758049	chr6:38588969-38711085	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv2759421	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv427754	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv428144	chr6:38588969-38711085	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv830642	chr6:38645056-38800657	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38641200-38670000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:38646000-38670000	Weak transcription	A549	lung
3	chr6:38651200-38670000	Weak transcription	Fetal Kidney	kidney
4	chr6:38653000-38670000	Weak transcription	NHDF-Ad	bronchial
5	chr6:38655200-38670000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:38657000-38670000	Weak transcription	Left Ventricle	heart
7	chr6:38657000-38670000	Weak transcription	Psoas Muscle	Psoas
8	chr6:38663600-38670200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:38665200-38670000	Weak transcription	Right Atrium	heart
10	chr6:38666600-38670000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr6:38666800-38670000	Weak transcription	Brain Angular Gyrus	brain
12	chr6:38667000-38670000	Weak transcription	Small Intestine	intestine
13	chr6:38667400-38670000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr6:38668400-38670000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:38668400-38670000	Weak transcription	Adipose Nuclei	Adipose
16	chr6:38668400-38670000	Enhancers	Liver	Liver
17	chr6:38668400-38670000	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:38668400-38670000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:38668400-38670000	Weak transcription	Fetal Thymus	thymus
20	chr6:38668400-38670000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr6:38668400-38670000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr6:38668400-38670200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:38668600-38670000	Weak transcription	Fetal Lung	lung
24	chr6:38669000-38670000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:38669000-38670000	Weak transcription	Fetal Intestine Large	intestine
26	chr6:38669000-38670000	Weak transcription	Fetal Intestine Small	intestine
27	chr6:38669000-38670000	Weak transcription	Fetal Stomach	stomach
28	chr6:38669000-38670000	Weak transcription	Ovary	ovary
29	chr6:38669000-38671400	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr6:38669200-38670000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr6:38669200-38670000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr6:38669200-38670000	Enhancers	Colon Smooth Muscle	Colon
33	chr6:38669200-38671000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:38669200-38671400	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr6:38669400-38670000	Enhancers	Primary B cells from peripheral blood	blood
36	chr6:38669400-38670000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:38669400-38670000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:38669400-38670000	Active TSS	Muscle Satellite Cultured Cells	--
39	chr6:38669400-38670000	Enhancers	Brain Substantia Nigra	brain
40	chr6:38669400-38670000	Active TSS	Hela-S3	cervix
41	chr6:38669400-38670000	Enhancers	HSMMtube	muscle
42	chr6:38669400-38670200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr6:38669400-38671000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:38669400-38671000	Active TSS	H9 Cell Line	embryonic stem cell
45	chr6:38669400-38671000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:38669400-38671000	Active TSS	Primary T cells from cord blood	blood
47	chr6:38669400-38671200	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr6:38669400-38671200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:38669400-38671400	Active TSS	H1 Cell Line	embryonic stem cell
50	chr6:38669400-38671400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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