Variant report

Variant	rs130297
Chromosome Location	chr22:33225951-33225952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32860159-32865649..22:33224847-33230875	Hela-S3	cervix:
2	22:32544939-32549151..22:33224847-33230875	Hela-S3	cervix:
3	22:32920308-32927723..22:33224847-33230875	H1-hESC	embryonic stem cell:	embryo
4	22:33224847-33230875..22:33339333-33353583	K562	blood:
5	22:32750950-32761732..22:33224847-33230875	Hela-S3	cervix:
6	chr22:33225157..33228070-chr22:33230052..33232364,2	K562	blood:
7	chr22:33223873..33228070-chr22:33230052..33232364,3	K562	blood:
8	22:32764253-32784733..22:33224847-33230875	K562	blood:

Variant related genes	Relation type
ENSG00000241954	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000205856	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs130295	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs80272	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33201000-33227400	Weak transcription	Aorta	Aorta
2	chr22:33201600-33226200	Weak transcription	NH-A	brain
3	chr22:33204800-33227800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr22:33207000-33226200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:33211000-33240400	Genic enhancers	Left Ventricle	heart
6	chr22:33212600-33227000	Weak transcription	Liver	Liver
7	chr22:33213600-33227000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr22:33216000-33226800	Weak transcription	Fetal Thymus	thymus
9	chr22:33217400-33226400	Weak transcription	Ovary	ovary
10	chr22:33217800-33226000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr22:33217800-33229000	Weak transcription	NHLF	lung
12	chr22:33217800-33248600	Weak transcription	Gastric	stomach
13	chr22:33218600-33226000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr22:33220600-33229800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr22:33221800-33226200	Strong transcription	Osteobl	bone
16	chr22:33221800-33228400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:33222200-33226400	Enhancers	Psoas Muscle	Psoas
18	chr22:33222200-33236000	Enhancers	Right Atrium	heart
19	chr22:33222400-33229000	Genic enhancers	Fetal Stomach	stomach
20	chr22:33222600-33226200	Enhancers	Brain Angular Gyrus	brain
21	chr22:33222600-33226400	Genic enhancers	Placenta	Placenta
22	chr22:33222600-33227000	Enhancers	NHDF-Ad	bronchial
23	chr22:33222600-33227200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr22:33222600-33228000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr22:33222600-33230800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr22:33222600-33240400	Genic enhancers	Adipose Nuclei	Adipose
27	chr22:33222600-33258800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr22:33222800-33226400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr22:33222800-33226600	Strong transcription	HepG2	liver
30	chr22:33222800-33228000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr22:33222800-33228200	Enhancers	Brain Hippocampus Middle	brain
32	chr22:33222800-33238200	Genic enhancers	Fetal Muscle Leg	muscle
33	chr22:33223000-33228200	Enhancers	Brain Substantia Nigra	brain
34	chr22:33223200-33226400	Enhancers	Fetal Heart	heart
35	chr22:33223200-33232600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr22:33223400-33226600	Weak transcription	Colonic Mucosa	Colon
37	chr22:33223400-33235400	Weak transcription	Fetal Intestine Large	intestine
38	chr22:33223600-33227600	Enhancers	Fetal Brain Male	brain
39	chr22:33223600-33228200	Enhancers	Brain Cingulate Gyrus	brain
40	chr22:33223800-33228200	Enhancers	Brain Anterior Caudate	brain
41	chr22:33223800-33228200	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr22:33223800-33229000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr22:33224000-33226800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr22:33224000-33226800	Genic enhancers	Stomach Smooth Muscle	stomach
45	chr22:33224200-33233400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr22:33224400-33226200	Weak transcription	NHEK	skin
47	chr22:33224400-33226400	Weak transcription	HSMMtube	muscle
48	chr22:33224600-33227000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr22:33224600-33227200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr22:33224600-33227800	Strong transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links