Variant report

Variant	rs10748630
Chromosome Location	chr10:97095793-97095794
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:97095230..97097767-chr10:97100422..97102441,2	K562	blood:
2	chr10:97080532..97082399-chr10:97094368..97096857,2	K562	blood:
3	chr10:97049700..97052145-chr10:97094615..97096548,2	K562	blood:
4	chr10:97095320..97097594-chr10:97105673..97108516,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107438	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10882584	0.86[CHD][hapmap]
rs11188272	0.84[CHD][hapmap]
rs11188276	0.86[CHD][hapmap]
rs14420	0.84[CHD][hapmap]
rs2296966	0.84[CHD][hapmap]
rs3740510	0.86[CHD][hapmap]
rs7096788	0.83[CHD][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10748630	ARHGAP19	cis	cerebellum	SCAN
rs10748630	RPL13AP5	cis	parietal	SCAN
rs10748630	OSBPL8	trans	cerebellum	SCAN

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97070400-97139600	Weak transcription	Fetal Brain Male	brain
2	chr10:97071000-97095800	Weak transcription	Pancreas	Pancrea
3	chr10:97071200-97098800	Weak transcription	Brain Substantia Nigra	brain
4	chr10:97074400-97095800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:97074600-97095800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr10:97075200-97098800	Weak transcription	Ovary	ovary
7	chr10:97079400-97101400	Weak transcription	Fetal Kidney	kidney
8	chr10:97079400-97106400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr10:97080000-97099000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:97080000-97109600	Weak transcription	Fetal Lung	lung
11	chr10:97080400-97106200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr10:97083000-97098000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr10:97087800-97095800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr10:97087800-97097800	Weak transcription	Brain Hippocampus Middle	brain
15	chr10:97087800-97115400	Weak transcription	Colonic Mucosa	Colon
16	chr10:97088000-97110600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr10:97089000-97096400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr10:97089200-97097200	Weak transcription	Brain Angular Gyrus	brain
19	chr10:97091000-97098000	Genic enhancers	Left Ventricle	heart
20	chr10:97091000-97102000	Strong transcription	Fetal Brain Female	brain
21	chr10:97091600-97099800	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr10:97091800-97101400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr10:97092600-97098200	Strong transcription	Fetal Intestine Large	intestine
24	chr10:97092600-97100200	Strong transcription	Liver	Liver
25	chr10:97093200-97095800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr10:97093200-97097800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr10:97093200-97099200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr10:97093200-97103600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr10:97093200-97106400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr10:97093400-97095800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr10:97093400-97103600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr10:97093400-97103600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr10:97093600-97096600	Genic enhancers	Adipose Nuclei	Adipose
34	chr10:97093600-97096800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr10:97093800-97098400	Genic enhancers	Stomach Smooth Muscle	stomach
36	chr10:97094000-97096200	Genic enhancers	Fetal Muscle Trunk	muscle
37	chr10:97094000-97096400	Genic enhancers	Colon Smooth Muscle	Colon
38	chr10:97094000-97097800	Enhancers	Right Atrium	heart
39	chr10:97094200-97096600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr10:97094200-97097400	Genic enhancers	Rectal Smooth Muscle	rectum
41	chr10:97094400-97096000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
42	chr10:97094400-97106600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr10:97094600-97096400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
44	chr10:97094600-97096800	Enhancers	Psoas Muscle	Psoas
45	chr10:97094600-97099400	Genic enhancers	HepG2	liver
46	chr10:97094600-97101200	Strong transcription	Brain Germinal Matrix	brain
47	chr10:97094600-97102600	Strong transcription	HSMMtube	muscle
48	chr10:97094600-97118000	Weak transcription	HSMM	muscle
49	chr10:97094800-97099400	Strong transcription	Fetal Stomach	stomach
50	chr10:97095000-97095800	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links