Variant report

Variant	rs12119249
Chromosome Location	chr1:150469480-150469481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150336617..150339130-chr1:150468184..150470243,2	K562	blood:
2	chr1:150469205..150471128-chr1:150476778..150478506,2	MCF-7	breast:
3	chr1:150469246..150471602-chr1:150537843..150540462,2	K562	blood:
4	chr1:150461642..150464701-chr1:150468175..150471507,3	MCF-7	breast:
5	chr1:150206275..150208952-chr1:150468371..150470113,2	K562	blood:

Variant related genes	Relation type
ENSG00000143401	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000264508	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11205363	0.82[ASN][1000 genomes]
rs11205372	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12027008	0.82[ASN][1000 genomes]
rs12032387	0.87[EUR][1000 genomes]
rs59325647	0.80[EUR][1000 genomes]
rs59844700	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61819393	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6685125	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150460600-150480200	Weak transcription	Right Atrium	heart
2	chr1:150460600-150480200	Weak transcription	Stomach Mucosa	stomach
3	chr1:150460800-150470000	Weak transcription	HMEC	breast
4	chr1:150460800-150470600	Weak transcription	Fetal Brain Male	brain
5	chr1:150460800-150476800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:150460800-150478000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:150460800-150480000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:150461000-150486800	Weak transcription	Fetal Heart	heart
9	chr1:150461200-150473600	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:150461200-150478200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:150461200-150478600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:150461400-150470800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:150461400-150475800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:150461400-150480000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:150461400-150480400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:150461400-150480400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr1:150461400-150480600	Strong transcription	Fetal Intestine Large	intestine
18	chr1:150461600-150473000	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:150461600-150473800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:150461800-150473800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:150462000-150480000	Strong transcription	Fetal Stomach	stomach
22	chr1:150462000-150480600	Strong transcription	Fetal Intestine Small	intestine
23	chr1:150462000-150485800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:150462400-150473800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:150463200-150479800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:150463400-150477600	Weak transcription	Fetal Kidney	kidney
27	chr1:150463600-150471400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:150464000-150475600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:150464000-150477000	Weak transcription	HUVEC	blood vessel
30	chr1:150464200-150470000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:150464200-150476800	Weak transcription	Psoas Muscle	Psoas
32	chr1:150464400-150471400	Weak transcription	Hela-S3	cervix
33	chr1:150464400-150475400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:150464800-150480200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:150465600-150470000	Weak transcription	Right Ventricle	heart
36	chr1:150466000-150477800	Weak transcription	Small Intestine	intestine
37	chr1:150466400-150469800	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:150466400-150470000	Weak transcription	NHLF	lung
39	chr1:150466400-150476600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr1:150466600-150470600	Weak transcription	NH-A	brain
41	chr1:150466800-150470600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:150466800-150470600	Weak transcription	HepG2	liver
43	chr1:150467600-150472800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:150468000-150479800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:150468000-150480800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:150468200-150472800	Strong transcription	Esophagus	oesophagus
47	chr1:150468200-150473600	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:150468200-150473600	Strong transcription	Fetal Brain Female	brain
49	chr1:150468200-150474000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:150468200-150478000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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