Variant report

Variant	rs12194553
Chromosome Location	chr6:16677895-16677896
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:16676782..16679768-chr6:16682093..16684371,2	K562	blood:
2	chr6:16676300..16679120-chr6:16683349..16685798,2	MCF-7	breast:
3	chr6:16677194..16679595-chr6:16680473..16682768,2	MCF-7	breast:
4	chr6:16676211..16678704-chr6:16685852..16687907,2	MCF-7	breast:
5	chr6:16677659..16679904-chr6:16763063..16764970,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272341	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10484365	1.00[ASN][1000 genomes]
rs16878738	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2209026	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6923746	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825589	1.00[ASN][1000 genomes]
rs73367677	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532022	chr6:16448152-16825567	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1031423	chr6:16467215-16823725	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1015992	chr6:16469059-16846847	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv538148	chr6:16469059-16846847	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:16662200-16684000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:16662200-16684000	Weak transcription	Placenta	Placenta
3	chr6:16662200-16685200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:16662200-16699600	Weak transcription	Fetal Intestine Large	intestine
5	chr6:16662400-16699600	Weak transcription	Fetal Intestine Small	intestine
6	chr6:16669600-16685200	Weak transcription	Fetal Kidney	kidney
7	chr6:16670400-16683600	Weak transcription	Small Intestine	intestine
8	chr6:16670600-16681400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:16670600-16681800	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:16670800-16685200	Weak transcription	Primary T cells from cord blood	blood
11	chr6:16671000-16684000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:16671200-16683800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr6:16671400-16681200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:16671400-16694800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr6:16671600-16680800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:16671600-16681400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr6:16671600-16681800	Weak transcription	Fetal Brain Male	brain
18	chr6:16671800-16680200	Weak transcription	Primary B cells from cord blood	blood
19	chr6:16671800-16687600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr6:16672000-16681400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:16672400-16680800	Weak transcription	HMEC	breast
22	chr6:16672600-16684200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr6:16672600-16685600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:16672800-16681800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:16672800-16683800	Weak transcription	Psoas Muscle	Psoas
26	chr6:16673000-16684000	Weak transcription	Right Ventricle	heart
27	chr6:16673200-16681000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr6:16673200-16700400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:16674000-16678200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr6:16674200-16681400	Weak transcription	Lung	lung
31	chr6:16674200-16684000	Weak transcription	Pancreas	Pancrea
32	chr6:16674600-16678000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:16674800-16678400	Enhancers	HepG2	liver
34	chr6:16675000-16678000	Enhancers	NH-A	brain
35	chr6:16675000-16678600	Enhancers	Colon Smooth Muscle	Colon
36	chr6:16675400-16679600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr6:16675400-16680400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr6:16675400-16683400	Weak transcription	Left Ventricle	heart
39	chr6:16675400-16684000	Weak transcription	Aorta	Aorta
40	chr6:16675400-16684000	Weak transcription	Spleen	Spleen
41	chr6:16675600-16680800	Weak transcription	NHEK	skin
42	chr6:16675600-16684000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr6:16675800-16681000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:16675800-16684200	Weak transcription	Fetal Stomach	stomach
45	chr6:16675800-16684400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:16676000-16683200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:16676400-16678000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr6:16676400-16678400	Enhancers	Liver	Liver
49	chr6:16676400-16678600	Enhancers	Fetal Lung	lung
50	chr6:16676600-16678000	Enhancers	Stomach Mucosa	stomach

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