Variant report

Variant	rs12726669
Chromosome Location	chr1:173854367-173854368
allele	A/C
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173834423..173839746-chr1:173850536..173854569,6	K562	blood:
2	chr1:173853137..173856860-chr1:173858771..173862944,6	K562	blood:
3	chr1:173854070..173860394-chr1:173860539..173867294,11	MCF-7	breast:
4	chr1:173853219..173856006-chr1:173864250..173866339,2	K562	blood:
5	chr1:173853006..173854798-chr1:173856901..173859018,2	K562	blood:
6	chr1:173836574..173839930-chr1:173853408..173856116,3	K562	blood:
7	chr1:173831191..173840458-chr1:173852193..173864862,18	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185278	Chromatin interaction
ENSG00000270084	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000208317	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16846495	1.00[AMR][1000 genomes]
rs2227600	1.00[AFR][1000 genomes]
rs34132629	1.00[AFR][1000 genomes]
rs35054401	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases
3	esv2757761	chr1:173810642-173955943	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
4	esv2758978	chr1:173810642-173955943	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173838200-173866000	Weak transcription	Small Intestine	intestine
2	chr1:173838400-173854800	Weak transcription	Aorta	Aorta
3	chr1:173838400-173854800	Weak transcription	Right Ventricle	heart
4	chr1:173838400-173860200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:173838600-173854800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:173838800-173855800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:173839000-173854800	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:173839000-173862800	Weak transcription	HMEC	breast
9	chr1:173839200-173855000	Weak transcription	A549	lung
10	chr1:173839600-173854600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:173840200-173854800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:173840200-173856800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:173840400-173855000	Weak transcription	Psoas Muscle	Psoas
14	chr1:173840800-173854600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:173840800-173854600	Weak transcription	Hela-S3	cervix
16	chr1:173840800-173854800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:173840800-173854800	Weak transcription	Brain Angular Gyrus	brain
18	chr1:173840800-173855000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:173840800-173855000	Weak transcription	NHDF-Ad	bronchial
20	chr1:173841000-173854800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:173841000-173854800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:173841000-173864400	Weak transcription	Fetal Heart	heart
23	chr1:173841000-173868600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:173841200-173854800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:173841800-173854800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:173841800-173854800	Weak transcription	K562	blood
27	chr1:173842600-173855000	Weak transcription	GM12878-XiMat	blood
28	chr1:173842800-173855200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr1:173842800-173859200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:173843200-173854800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:173843200-173854800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:173845000-173854800	Weak transcription	Spleen	Spleen
33	chr1:173845200-173854800	Weak transcription	Ovary	ovary
34	chr1:173845200-173854800	Weak transcription	NHEK	skin
35	chr1:173845800-173854800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:173846000-173854800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:173846200-173854600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:173846200-173854800	Weak transcription	Thymus	Thymus
39	chr1:173846200-173856000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:173846400-173855200	Weak transcription	Osteobl	bone
41	chr1:173846600-173854600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:173846600-173854800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:173846800-173854800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:173846800-173854800	Weak transcription	Liver	Liver
45	chr1:173846800-173854800	Weak transcription	HepG2	liver
46	chr1:173847000-173854600	Weak transcription	Pancreas	Pancrea
47	chr1:173847000-173854800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr1:173847000-173854800	Weak transcription	Brain Substantia Nigra	brain
49	chr1:173847000-173854800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:173847200-173855000	Weak transcription	Fetal Kidney	kidney

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