Variant report

Variant	rs6988826
Chromosome Location	chr8:10109625-10109626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10503406	0.95[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1052453	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17693945	0.81[AMR][1000 genomes]
rs4841298	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6983870	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1026335	chr8:10037279-10139782	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1028650	chr8:10101815-10178537	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6988826	BLK	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10095400-10111600	Weak transcription	Primary T cells from cord blood	blood
2	chr8:10096000-10128000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:10103200-10117800	Weak transcription	Pancreas	Pancrea
4	chr8:10103400-10110000	Weak transcription	Lung	lung
5	chr8:10103400-10110000	Weak transcription	Psoas Muscle	Psoas
6	chr8:10103400-10111400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:10103400-10111600	Weak transcription	Left Ventricle	heart
8	chr8:10103400-10112000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:10103400-10115800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:10103600-10110600	Weak transcription	Ovary	ovary
11	chr8:10103600-10111400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:10103600-10111600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr8:10103600-10115600	Weak transcription	Fetal Intestine Small	intestine
14	chr8:10103600-10118000	Weak transcription	Gastric	stomach
15	chr8:10103600-10122600	Weak transcription	Spleen	Spleen
16	chr8:10104000-10124600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:10104800-10111400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:10105600-10122800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:10106200-10112600	Weak transcription	Fetal Brain Female	brain
20	chr8:10108200-10112000	Weak transcription	Brain Substantia Nigra	brain
21	chr8:10108400-10111200	Weak transcription	Brain Germinal Matrix	brain
22	chr8:10108400-10113000	Weak transcription	Fetal Brain Male	brain
23	chr8:10109200-10111400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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