Variant report

Variant	rs12206173
Chromosome Location	chr6:33601671-33601672
allele	C/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	chr6:33581288..33583329-chr6:33600315..33602072,2	K562	blood:
2	chr6:33594027..33596927-chr6:33599242..33602574,3	MCF-7	breast:
3	chr6:33587615..33592788-chr6:33598465..33603336,10	MCF-7	breast:
4	chr6:33600933..33606541-chr6:33607486..33611147,7	K562	blood:
5	chr6:33552057..33555351-chr6:33600748..33604007,3	MCF-7	breast:
6	chr6:33576269..33579262-chr6:33600060..33601906,2	MCF-7	breast:
7	chr6:33600220..33603162-chr6:33605195..33607351,4	MCF-7	breast:
8	chr6:33599796..33602757-chr6:33660954..33662454,2	MCF-7	breast:
9	chr6:33558226..33560678-chr6:33600632..33602616,2	K562	blood:
10	chr6:33559235..33561175-chr6:33600518..33603338,2	K562	blood:
11	chr6:33238461..33240272-chr6:33600741..33603344,2	MCF-7	breast:
12	chr6:33601381..33603643-chr6:33673390..33675664,2	K562	blood:
13	chr6:33599307..33602028-chr6:33636164..33638489,2	MCF-7	breast:
14	chr6:33569313..33571736-chr6:33599981..33602556,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231500	Chromatin interaction
ENSG00000096433	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000197251	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10947415	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10947418	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11755257	0.97[EUR][1000 genomes]
rs11757612	0.86[EUR][1000 genomes]
rs11758330	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12153870	0.80[EUR][1000 genomes]
rs12200154	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12205667	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12207576	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13207407	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13220421	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34376580	0.88[EUR][1000 genomes]
rs35088242	0.82[EUR][1000 genomes]
rs35329444	0.89[EUR][1000 genomes]
rs36097803	0.80[AMR][1000 genomes]
rs71565393	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
3	esv1817557	chr6:33584788-33614127	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv1813933	chr6:33587443-33614127	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv830639	chr6:33592022-33711346	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33599600-33602800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:33600400-33602400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:33600400-33602400	Flanking Active TSS	Dnd41	blood
4	chr6:33600600-33601800	Enhancers	Fetal Heart	heart
5	chr6:33600600-33602000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:33600600-33602200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr6:33600600-33602200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:33600600-33602400	Flanking Active TSS	Colonic Mucosa	Colon
9	chr6:33600600-33602600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr6:33600600-33603400	Enhancers	Lung	lung
11	chr6:33600600-33603400	Enhancers	Spleen	Spleen
12	chr6:33600800-33601800	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr6:33600800-33601800	Bivalent/Poised TSS	Fetal Brain Female	brain
14	chr6:33600800-33602000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr6:33600800-33602000	Active TSS	H9 Cell Line	embryonic stem cell
16	chr6:33600800-33602000	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr6:33600800-33602000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr6:33600800-33602000	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr6:33600800-33602400	Flanking Active TSS	HMEC	breast
20	chr6:33600800-33602600	Enhancers	Small Intestine	intestine
21	chr6:33601000-33601800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:33601000-33601800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:33601000-33601800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
24	chr6:33601000-33601800	Active TSS	Duodenum Mucosa	Duodenum
25	chr6:33601000-33601800	Active TSS	Rectal Smooth Muscle	rectum
26	chr6:33601000-33601800	Active TSS	NHLF	lung
27	chr6:33601000-33601800	Active TSS	Osteobl	bone
28	chr6:33601000-33602000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:33601000-33602000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:33601000-33602000	Active TSS	A549	lung
31	chr6:33601000-33602000	Flanking Active TSS	NH-A	brain
32	chr6:33601000-33602400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:33601000-33602400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:33601000-33602400	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr6:33601000-33602400	Flanking Active TSS	Right Ventricle	heart
36	chr6:33601000-33602400	Flanking Active TSS	HSMM	muscle
37	chr6:33601000-33602600	Flanking Active TSS	Pancreas	Pancrea
38	chr6:33601200-33601800	Active TSS	H1 Cell Line	embryonic stem cell
39	chr6:33601200-33601800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:33601200-33601800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:33601200-33601800	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr6:33601200-33601800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:33601200-33601800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:33601200-33601800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:33601200-33601800	Active TSS	Primary T cells from cord blood	blood
46	chr6:33601200-33601800	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr6:33601200-33601800	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr6:33601200-33601800	Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr6:33601200-33601800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:33601200-33601800	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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