Variant report

Variant	rs72970314
Chromosome Location	chr3:119162021-119162022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119156331..119159006-chr3:119161359..119162889,2	K562	blood:
2	chr3:119162009..119164409-chr3:119217527..119219031,2	MCF-7	breast:
3	chr3:119159984..119162749-chr3:119216871..119219085,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113845	Chromatin interaction
ENSG00000272662	Chromatin interaction
ENSG00000176142	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11921247	1.00[EUR][1000 genomes]
rs16830079	1.00[EUR][1000 genomes]
rs16830095	1.00[EUR][1000 genomes]
rs16830098	1.00[EUR][1000 genomes]
rs3968056	1.00[AMR][1000 genomes]
rs56659708	1.00[AMR][1000 genomes]
rs61324063	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61744178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61744411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61747387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6766961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6772192	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6781905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6782742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72966441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72966442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968499	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970322	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7648461	0.87[AFR][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats 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 miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119147000-119179000	Strong transcription	Osteobl	bone
2	chr3:119147200-119180400	Weak transcription	Stomach Mucosa	stomach
3	chr3:119147400-119179200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:119148000-119162200	Strong transcription	Duodenum Smooth Muscle	Duodenum
5	chr3:119148800-119175400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr3:119148800-119180400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:119149400-119179000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr3:119149400-119181000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:119149400-119181600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:119149600-119172600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:119150200-119179000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:119150400-119180200	Strong transcription	Fetal Intestine Large	intestine
13	chr3:119150600-119175400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr3:119150600-119180800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:119151000-119165000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:119152000-119178000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:119152000-119179800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:119152200-119178800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:119152200-119179400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:119154000-119181800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:119154400-119171400	Strong transcription	Fetal Stomach	stomach
22	chr3:119156000-119164200	Weak transcription	Psoas Muscle	Psoas
23	chr3:119156200-119163800	Weak transcription	Small Intestine	intestine
24	chr3:119156400-119165400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:119156800-119163800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr3:119156800-119164400	Weak transcription	HMEC	breast
27	chr3:119156800-119165000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr3:119157000-119163400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:119157000-119163400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:119157000-119163600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr3:119157000-119163800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:119157000-119163800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:119157000-119163800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr3:119157000-119163800	Weak transcription	Colonic Mucosa	Colon
35	chr3:119157000-119163800	Weak transcription	Gastric	stomach
36	chr3:119157000-119164200	Weak transcription	Pancreas	Pancrea
37	chr3:119157000-119164600	Weak transcription	Lung	lung
38	chr3:119157000-119164800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr3:119157000-119164800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr3:119157000-119165000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr3:119157000-119165000	Weak transcription	Spleen	Spleen
42	chr3:119157000-119173000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr3:119157000-119177000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:119157200-119164400	Weak transcription	Fetal Brain Female	brain
45	chr3:119157200-119164600	Weak transcription	Brain Angular Gyrus	brain
46	chr3:119157200-119164600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr3:119157200-119165000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr3:119157200-119165000	Weak transcription	Colon Smooth Muscle	Colon
49	chr3:119157200-119165200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr3:119157200-119165400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links