Variant report

Variant	rs11997023
Chromosome Location	chr8:48637704-48637705
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48636536..48638742-chr8:48640103..48642725,2	K562	blood:
2	chr8:48634971..48637843-chr8:48644655..48647142,2	K562	blood:
3	chr8:48635564..48638783-chr8:48643339..48646155,3	K562	blood:
4	chr8:48172396..48174934-chr8:48635802..48638042,2	K562	blood:
5	chr8:48635174..48641893-chr8:48648550..48652485,8	MCF-7	breast:
6	chr8:48635935..48637987-chr8:48638450..48640255,2	K562	blood:

Variant related genes	Relation type
ENSG00000221869	Chromatin interaction
ENSG00000164808	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10086266	0.82[AFR][1000 genomes]
rs10093950	0.87[AFR][1000 genomes]
rs10099656	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10102782	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10104074	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs10106803	0.94[YRI][hapmap];0.96[AFR][1000 genomes]
rs10108990	0.98[AFR][1000 genomes]
rs10110049	0.85[AFR][1000 genomes]
rs10111963	0.92[YRI][hapmap];0.87[AFR][1000 genomes]
rs11987727	0.87[AFR][1000 genomes]
rs11993708	0.81[AFR][1000 genomes]
rs11998483	0.81[AFR][1000 genomes]
rs28366397	0.87[AFR][1000 genomes]
rs28407704	0.84[AFR][1000 genomes]
rs28439682	0.87[AFR][1000 genomes]
rs28583978	0.98[AFR][1000 genomes]
rs28603312	1.00[AFR][1000 genomes]
rs28683713	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28701667	0.81[AFR][1000 genomes]
rs28812773	0.81[AFR][1000 genomes]
rs28895958	0.94[AFR][1000 genomes]
rs28897086	0.81[AFR][1000 genomes]
rs34142661	0.87[AFR][1000 genomes]
rs6473874	0.85[AFR][1000 genomes]
rs6980675	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6982040	0.91[AFR][1000 genomes]
rs6982203	0.81[AFR][1000 genomes]
rs7003614	0.86[AFR][1000 genomes]
rs7010172	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7014936	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73677550	0.98[AFR][1000 genomes]
rs7819424	0.85[AFR][1000 genomes]
rs7823419	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7839604	0.81[AFR][1000 genomes]
rs8178037	0.81[AFR][1000 genomes]
rs8178117	0.85[AFR][1000 genomes]
rs8178176	0.83[AFR][1000 genomes]
rs8178185	0.85[AFR][1000 genomes]
rs8178240	0.87[AFR][1000 genomes]
rs8178253	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1026287	chr8:48615720-48710849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48597200-48647200	Weak transcription	NHEK	skin
2	chr8:48597200-48647400	Weak transcription	HMEC	breast
3	chr8:48602800-48647800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:48604400-48648400	Weak transcription	Small Intestine	intestine
5	chr8:48606800-48646400	Weak transcription	Fetal Heart	heart
6	chr8:48612000-48647400	Weak transcription	NH-A	brain
7	chr8:48612400-48640000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:48613600-48647200	Weak transcription	A549	lung
9	chr8:48618000-48638800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:48618000-48648800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr8:48618200-48651200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr8:48619200-48648400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:48619200-48649000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:48619600-48647600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:48624200-48641600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr8:48624400-48647800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:48624600-48643800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:48626200-48638400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:48626200-48646000	Weak transcription	Colonic Mucosa	Colon
20	chr8:48626600-48639200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr8:48626600-48646400	Weak transcription	Osteobl	bone
22	chr8:48626600-48646600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr8:48626600-48648200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:48626800-48638400	Weak transcription	Fetal Thymus	thymus
25	chr8:48626800-48644400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:48627000-48638000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:48627000-48641200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:48627000-48646200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:48627000-48646800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr8:48627000-48647000	Weak transcription	Fetal Kidney	kidney
31	chr8:48627000-48647200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:48627000-48647200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:48627400-48641000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:48627400-48641200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:48627800-48642800	Weak transcription	GM12878-XiMat	blood
36	chr8:48629800-48641400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:48630200-48641200	Weak transcription	Right Ventricle	heart
38	chr8:48630800-48643000	Weak transcription	Psoas Muscle	Psoas
39	chr8:48632600-48638600	Weak transcription	Esophagus	oesophagus
40	chr8:48632600-48643800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:48632600-48644000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:48632600-48644000	Weak transcription	HSMM	muscle
43	chr8:48632600-48647200	Weak transcription	Aorta	Aorta
44	chr8:48632800-48646800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr8:48632800-48648600	Weak transcription	Brain Germinal Matrix	brain
46	chr8:48633000-48638400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:48633000-48639200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:48633000-48639400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr8:48633000-48640800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr8:48633000-48641400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links