Variant report

Variant	rs3801148
Chromosome Location	chr7:139694500-139694501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139694172..139696537-chr7:139698410..139700449,2	K562	blood:
2	chr7:139686696..139690910-chr7:139691062..139695486,5	K562	blood:
3	chr7:139023856..139025917-chr7:139693377..139696075,2	K562	blood:

Variant related genes	Relation type
ENSG00000146963	Chromatin interaction
ENSG00000164898	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2267704	0.86[JPT][hapmap]
rs2284212	0.81[JPT][hapmap]
rs7795996	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv1828807	chr7:139675550-139727974	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139672000-139704400	Weak transcription	Lung	lung
2	chr7:139679200-139695000	Weak transcription	Esophagus	oesophagus
3	chr7:139681000-139717800	Weak transcription	Thymus	Thymus
4	chr7:139689600-139701800	Weak transcription	Fetal Kidney	kidney
5	chr7:139690800-139705600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:139691000-139695200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:139691200-139706000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:139691400-139695000	Weak transcription	A549	lung
9	chr7:139691400-139697600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:139691800-139694600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:139692000-139706400	Weak transcription	Spleen	Spleen
12	chr7:139692400-139694600	Weak transcription	Placenta	Placenta
13	chr7:139692600-139694600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:139692600-139695200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr7:139692600-139700800	Weak transcription	Fetal Thymus	thymus
16	chr7:139693000-139695800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr7:139693200-139696800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:139693200-139729000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr7:139693400-139695400	Enhancers	Brain Angular Gyrus	brain
20	chr7:139693400-139697600	Enhancers	Brain Hippocampus Middle	brain
21	chr7:139693400-139697800	Enhancers	Brain Substantia Nigra	brain
22	chr7:139694200-139695200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:139694200-139695400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:139694200-139695400	Enhancers	Brain Cingulate Gyrus	brain
25	chr7:139694200-139695400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr7:139694200-139695400	Enhancers	Fetal Intestine Small	intestine
27	chr7:139694200-139695600	Enhancers	Brain Anterior Caudate	brain
28	chr7:139694200-139695600	Enhancers	Fetal Muscle Leg	muscle
29	chr7:139694200-139695600	Enhancers	NHLF	lung
30	chr7:139694200-139695800	Enhancers	Fetal Stomach	stomach
31	chr7:139694200-139697000	Enhancers	Fetal Lung	lung
32	chr7:139694400-139695000	Enhancers	Primary hematopoietic stem cells	blood
33	chr7:139694400-139695400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:139694400-139695400	Enhancers	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links