Variant report

Variant	rs12665269
Chromosome Location	chr6:144698334-144698335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144687742..144689243-chr6:144697539..144700530,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12662904	0.90[ASN][1000 genomes]
rs12663172	0.84[ASN][1000 genomes]
rs12663605	0.85[ASN][1000 genomes]
rs12664421	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58104509	0.93[EUR][1000 genomes]
rs58108287	0.93[EUR][1000 genomes]
rs59862970	0.93[EUR][1000 genomes]
rs60234245	0.90[ASN][1000 genomes]
rs6570623	0.93[EUR][1000 genomes]
rs6570625	0.84[AFR][1000 genomes]
rs6903993	0.95[AFR][1000 genomes]
rs6917034	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73594936	0.99[AFR][1000 genomes]
rs73594937	0.99[AFR][1000 genomes]
rs73594958	0.93[EUR][1000 genomes]
rs73594960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73594967	0.93[EUR][1000 genomes]
rs73780544	0.99[AFR][1000 genomes]
rs7743190	0.99[AFR][1000 genomes]
rs7745285	0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7761280	0.99[AFR][1000 genomes]
rs7765364	0.93[EUR][1000 genomes]
rs7770411	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9496948	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9496949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9496950	0.96[AFR][1000 genomes];0.97[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	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144673400-144699600	Weak transcription	Fetal Stomach	stomach
2	chr6:144681800-144699600	Weak transcription	Esophagus	oesophagus
3	chr6:144683600-144699600	Weak transcription	Ovary	ovary
4	chr6:144683800-144704600	Weak transcription	Aorta	Aorta
5	chr6:144684800-144699200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:144686600-144699600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:144686600-144700800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:144688000-144698400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:144688000-144698600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:144688200-144698600	Weak transcription	Adipose Nuclei	Adipose
11	chr6:144690800-144712800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:144691600-144713800	Weak transcription	Thymus	Thymus
13	chr6:144692200-144698600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:144692200-144698600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:144692200-144698600	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:144692200-144701600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:144692400-144702000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:144692400-144702200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr6:144693200-144699800	Weak transcription	GM12878-XiMat	blood
20	chr6:144693600-144698400	Weak transcription	NHLF	lung
21	chr6:144694200-144698400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:144694600-144698600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:144694800-144698400	Weak transcription	Fetal Thymus	thymus
24	chr6:144694800-144698400	Weak transcription	NHDF-Ad	bronchial
25	chr6:144694800-144698600	Weak transcription	HMEC	breast
26	chr6:144694800-144699400	Weak transcription	NHEK	skin
27	chr6:144695000-144700000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:144695200-144698400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:144695600-144698800	Enhancers	Primary T cells fromperipheralblood	blood
30	chr6:144695600-144699800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr6:144696000-144699000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr6:144696400-144699000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr6:144696400-144701200	Strong transcription	Primary B cells from cord blood	blood
34	chr6:144696600-144699600	Weak transcription	Dnd41	blood
35	chr6:144697000-144698400	Weak transcription	Colon Smooth Muscle	Colon
36	chr6:144697000-144698400	Weak transcription	Right Atrium	heart
37	chr6:144697000-144698400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr6:144697000-144698600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:144697000-144698600	Weak transcription	Brain Anterior Caudate	brain
40	chr6:144697000-144698800	Weak transcription	Small Intestine	intestine
41	chr6:144697000-144699400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr6:144697000-144700000	Weak transcription	Brain Substantia Nigra	brain
43	chr6:144697000-144714800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr6:144697200-144698400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:144697200-144698400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr6:144697200-144698400	Weak transcription	Stomach Mucosa	stomach
47	chr6:144697200-144698400	Weak transcription	Spleen	Spleen
48	chr6:144697200-144698400	Weak transcription	A549	lung
49	chr6:144697200-144698600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr6:144697200-144698600	Weak transcription	Left Ventricle	heart

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