Variant report

Variant	rs11986341
Chromosome Location	chr8:38823511-38823512
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr8:38823417-38824548	SK-N-SH	brain:	n/a	chr8:38824161-38824180 chr8:38824164-38824177
2	STAT3	chr8:38823387-38823587	MCF10A-Er-Src	breast:	n/a	n/a
3	CTCF	chr8:38823388-38824560	SK-N-SH	brain:	n/a	chr8:38824163-38824181 chr8:38824165-38824178 chr8:38824158-38824179

No.	Distal block	Cell Line	Cell type
1	chr8:38713415..38714281-chr8:38822635..38823554,2	K562	blood:
2	chr8:38707845..38711256-chr8:38821077..38824253,4	MCF-7	breast:
3	chr8:38814756..38818427-chr8:38822560..38824207,3	K562	blood:
4	chr8:38817416..38820372-chr8:38822881..38825576,2	K562	blood:
5	chr8:38713423..38714279-chr8:38823384..38824403,4	MCF-7	breast:
6	chr8:38794301..38797045-chr8:38822308..38824981,2	MCF-7	breast:
7	chr8:38822262..38824083-chr8:38854161..38856355,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHA2	TF binding region
ENSG00000169490	Chromatin interaction
ENSG00000168615	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10100675	0.94[EUR][1000 genomes]
rs10102161	0.81[EUR][1000 genomes]
rs10104287	0.94[EUR][1000 genomes]
rs11987820	0.94[ASN][1000 genomes]
rs17846551	0.94[EUR][1000 genomes]
rs4313121	0.91[CEU][hapmap]
rs4367507	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs4576396	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs4733895	0.93[CEU][hapmap];0.82[GIH][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs4733896	0.89[EUR][1000 genomes]
rs4733898	0.89[EUR][1000 genomes]
rs4733902	0.86[CEU][hapmap]
rs4733960	0.93[CEU][hapmap];0.88[GIH][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes]
rs4733963	0.93[CEU][hapmap];0.84[GIH][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs4733965	0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs4733967	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs4733968	0.86[CEU][hapmap]
rs4733969	0.86[CEU][hapmap];0.83[TSI][hapmap]
rs62504408	0.96[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs62504409	0.96[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs62504410	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6989615	0.82[EUR][1000 genomes]
rs6990299	0.81[TSI][hapmap]
rs6995969	0.86[CEU][hapmap];0.83[TSI][hapmap]
rs7829041	0.90[EUR][1000 genomes]
rs7833611	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs7840293	0.92[EUR][1000 genomes]
rs7840746	0.92[EUR][1000 genomes]
rs7844848	0.92[EUR][1000 genomes]
rs9298649	0.80[EUR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11986341	ADAM32	cis	parietal	SCAN
rs11986341	ADAM32	cis	cerebellum	SCAN
rs11986341	POLB	cis	cerebellum	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38795800-38830600	Weak transcription	Fetal Kidney	kidney
2	chr8:38797000-38831200	Weak transcription	Psoas Muscle	Psoas
3	chr8:38802800-38831000	Weak transcription	K562	blood
4	chr8:38810200-38831000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:38811800-38823800	Weak transcription	Fetal Brain Male	brain
6	chr8:38814000-38826000	Weak transcription	Pancreas	Pancrea
7	chr8:38815000-38823600	Weak transcription	Brain Angular Gyrus	brain
8	chr8:38815600-38823600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr8:38815800-38827200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:38816000-38825600	Weak transcription	HSMMtube	muscle
11	chr8:38816200-38829600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr8:38816200-38830800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:38816400-38823600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:38816400-38823600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:38816600-38825200	Genic enhancers	Primary B cells from cord blood	blood
16	chr8:38816800-38831400	Weak transcription	Gastric	stomach
17	chr8:38817000-38826800	Weak transcription	Esophagus	oesophagus
18	chr8:38817400-38827000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:38817600-38823800	Weak transcription	Colonic Mucosa	Colon
20	chr8:38817600-38826800	Weak transcription	Brain Anterior Caudate	brain
21	chr8:38817600-38826800	Weak transcription	Small Intestine	intestine
22	chr8:38817600-38827400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:38817600-38831600	Weak transcription	NHEK	skin
24	chr8:38817800-38823600	Weak transcription	Right Ventricle	heart
25	chr8:38817800-38823600	Weak transcription	A549	lung
26	chr8:38817800-38823800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:38817800-38825400	Weak transcription	Liver	Liver
28	chr8:38817800-38835200	Weak transcription	HepG2	liver
29	chr8:38818000-38823800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:38818000-38825200	Weak transcription	Fetal Intestine Large	intestine
31	chr8:38818200-38824800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:38818600-38823600	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:38818600-38823800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:38819400-38826000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:38819400-38831200	Weak transcription	NH-A	brain
36	chr8:38819800-38824200	Enhancers	Fetal Thymus	thymus
37	chr8:38819800-38824200	Enhancers	Thymus	Thymus
38	chr8:38819800-38825800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:38819800-38826200	Weak transcription	Aorta	Aorta
40	chr8:38820000-38823600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:38820000-38823800	Weak transcription	Fetal Intestine Small	intestine
42	chr8:38820000-38824200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr8:38820000-38825800	Weak transcription	Fetal Stomach	stomach
44	chr8:38820000-38826000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:38820000-38826200	Weak transcription	HMEC	breast
46	chr8:38820200-38824000	Enhancers	Primary T cells from cord blood	blood
47	chr8:38820200-38825600	Weak transcription	Fetal Lung	lung
48	chr8:38820200-38825800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:38820400-38823600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:38820400-38823600	Weak transcription	Fetal Heart	heart

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