Variant report

Variant	rs8140511
Chromosome Location	chr22:29357926-29357927
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29353102..29355406-chr22:29355625..29358166,3	MCF-7	breast:
2	chr22:29357505..29361534-chr22:29364431..29368155,3	K562	blood:
3	chr22:29279602..29282163-chr22:29357166..29358723,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183579	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11912894	1.00[CEU][hapmap]
rs11913805	1.00[CEU][hapmap]
rs16987065	1.00[CEU][hapmap]
rs16987067	1.00[CEU][hapmap]
rs16987167	1.00[CEU][hapmap]
rs41382448	1.00[CEU][hapmap]
rs4508707	1.00[CEU][hapmap]
rs57290501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5762930	1.00[CEU][hapmap]
rs5762931	1.00[CEU][hapmap]
rs58882864	0.87[EUR][1000 genomes]
rs60215639	0.87[EUR][1000 genomes]
rs722590	1.00[CEU][hapmap]
rs725281	1.00[CEU][hapmap]
rs7292483	0.87[EUR][1000 genomes]
rs8138320	1.00[CEU][hapmap]
rs8138963	1.00[CEU][hapmap]
rs8139248	1.00[CEU][hapmap]
rs8140748	1.00[CEU][hapmap]
rs8141696	1.00[CEU][hapmap]
rs8141812	1.00[CEU][hapmap]
rs974370	1.00[CEU][hapmap]

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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29348200-29365000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr22:29348800-29360400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr22:29349200-29365400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr22:29349200-29371800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr22:29349200-29371800	Weak transcription	HSMM	muscle
6	chr22:29349600-29359600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr22:29349800-29360400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr22:29350000-29358400	Weak transcription	Fetal Lung	lung
9	chr22:29350000-29363000	Weak transcription	Liver	Liver
10	chr22:29350000-29372800	Weak transcription	Aorta	Aorta
11	chr22:29350400-29361000	Weak transcription	Ovary	ovary
12	chr22:29351400-29362200	Genic enhancers	HepG2	liver
13	chr22:29352400-29359600	Weak transcription	Gastric	stomach
14	chr22:29352800-29360400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr22:29353000-29358200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:29353000-29358200	Weak transcription	Fetal Muscle Leg	muscle
17	chr22:29353000-29359200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr22:29353200-29358000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr22:29353200-29358400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr22:29353400-29358400	Weak transcription	Brain Angular Gyrus	brain
21	chr22:29354800-29360600	Weak transcription	Right Ventricle	heart
22	chr22:29354800-29364800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr22:29354800-29365600	Weak transcription	Lung	lung
24	chr22:29355000-29358200	Weak transcription	Fetal Kidney	kidney
25	chr22:29355200-29365400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:29355400-29358400	Weak transcription	Left Ventricle	heart
27	chr22:29355400-29360400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr22:29355400-29360800	Weak transcription	Colon Smooth Muscle	Colon
29	chr22:29355400-29363600	Weak transcription	Fetal Stomach	stomach
30	chr22:29355400-29364800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr22:29355400-29365000	Weak transcription	Right Atrium	heart
32	chr22:29355400-29365400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr22:29355400-29372800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr22:29355800-29364600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr22:29356000-29358200	Weak transcription	Fetal Intestine Large	intestine
36	chr22:29356000-29358200	Weak transcription	Fetal Intestine Small	intestine
37	chr22:29356000-29359000	Weak transcription	Pancreas	Pancrea
38	chr22:29356000-29360400	Weak transcription	Esophagus	oesophagus
39	chr22:29356000-29365400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr22:29356800-29358800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr22:29356800-29366400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr22:29357000-29358600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr22:29357000-29359400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr22:29357200-29359400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr22:29357200-29360400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr22:29357400-29358000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr22:29357400-29358000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr22:29357400-29358400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr22:29357400-29358800	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr22:29357400-29359000	Enhancers	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links