Variant report

Variant	rs12088949
Chromosome Location	chr1:173433845-173433846
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173431852..173434200-chr1:173446152..173447962,2	MCF-7	breast:
2	chr1:173433519..173435552-chr1:173450186..173452414,2	K562	blood:
3	chr1:173422573..173424450-chr1:173433493..173435623,2	K562	blood:

Variant related genes	Relation type
ENSG00000117592	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10912620	0.95[AFR][1000 genomes]
rs11484638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12058528	0.81[AFR][1000 genomes]
rs12061817	0.95[AFR][1000 genomes]
rs12089119	0.93[AFR][1000 genomes]
rs12092458	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6656413	0.93[AFR][1000 genomes]
rs6664925	0.91[AMR][1000 genomes]
rs7529099	0.91[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173419000-173439000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:173421400-173434000	Weak transcription	Psoas Muscle	Psoas
3	chr1:173423800-173436600	Weak transcription	NHDF-Ad	bronchial
4	chr1:173423800-173442400	Weak transcription	NH-A	brain
5	chr1:173425200-173442400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:173429400-173439800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:173430400-173435000	Weak transcription	Brain Angular Gyrus	brain
8	chr1:173430400-173437200	Weak transcription	NHLF	lung
9	chr1:173430400-173437800	Weak transcription	Esophagus	oesophagus
10	chr1:173430400-173439200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:173430400-173442400	Weak transcription	Gastric	stomach
12	chr1:173430400-173442800	Weak transcription	Pancreas	Pancrea
13	chr1:173430400-173444400	Weak transcription	Right Ventricle	heart
14	chr1:173430600-173438000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:173430600-173438800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:173430600-173439000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:173430600-173439800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:173430600-173442600	Weak transcription	Aorta	Aorta
19	chr1:173430600-173443200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:173430600-173444400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:173430800-173437800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:173430800-173439400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:173430800-173439800	Weak transcription	Fetal Stomach	stomach
24	chr1:173430800-173445000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:173431000-173435400	Weak transcription	Adipose Nuclei	Adipose
26	chr1:173431000-173436400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:173431000-173436600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:173431000-173436800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:173431000-173436800	Weak transcription	Osteobl	bone
30	chr1:173431000-173438600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:173431000-173438800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr1:173431000-173439000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:173431000-173439200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:173431000-173439600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:173431000-173439600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:173431000-173439600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr1:173431000-173439800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:173431000-173439800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:173431000-173439800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:173431000-173442400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:173431000-173442400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:173431000-173442400	Weak transcription	Hela-S3	cervix
43	chr1:173431000-173442600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:173431000-173442600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:173431000-173444400	Weak transcription	Left Ventricle	heart
46	chr1:173431200-173436200	Weak transcription	Primary B cells from cord blood	blood
47	chr1:173431200-173436200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:173431200-173436200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:173431200-173439800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:173431200-173439800	Weak transcription	Monocytes-CD14+_RO01746	blood

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