Variant report

Variant	rs35130171
Chromosome Location	chr8:10190735-10190736
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:9815524..9816032-chr8:10190161..10190769,2	MCF-7	breast:
2	chr8:10182025..10184201-chr8:10189131..10192259,3	K562	blood:
3	chr8:9898822..9899498-chr8:10190113..10190904,3	K562	blood:

Variant related genes	Relation type
ENSG00000175806	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs13249929	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34113732	0.83[AMR][1000 genomes]
rs56231036	0.83[ASN][1000 genomes]
rs7837316	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9644722	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35130171	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs35130171	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10176600-10191200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:10179400-10191200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:10179400-10191200	Weak transcription	Fetal Intestine Small	intestine
4	chr8:10179400-10191200	Weak transcription	Pancreas	Pancrea
5	chr8:10179400-10192000	Weak transcription	Aorta	Aorta
6	chr8:10182600-10192000	Weak transcription	Right Ventricle	heart
7	chr8:10186000-10190800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:10186800-10192200	Enhancers	Fetal Brain Male	brain
9	chr8:10188000-10191200	Enhancers	Fetal Brain Female	brain
10	chr8:10189000-10191600	Enhancers	Brain Angular Gyrus	brain
11	chr8:10189600-10191200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr8:10189600-10191400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:10189600-10191600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr8:10189800-10191200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr8:10189800-10191600	Enhancers	Brain Anterior Caudate	brain
16	chr8:10189800-10191600	Enhancers	Brain Cingulate Gyrus	brain
17	chr8:10189800-10192000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:10190000-10190800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:10190000-10191000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr8:10190000-10191200	Enhancers	Brain Substantia Nigra	brain
21	chr8:10190000-10191400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:10190000-10191400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:10190000-10191400	Enhancers	Fetal Thymus	thymus
24	chr8:10190000-10191600	Enhancers	H9 Cell Line	embryonic stem cell
25	chr8:10190000-10191600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:10190000-10191600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr8:10190000-10191600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:10190000-10191800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr8:10190000-10191800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr8:10190000-10192800	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr8:10190200-10190800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:10190200-10190800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr8:10190200-10191000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:10190200-10191200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr8:10190200-10191200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr8:10190200-10191400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr8:10190200-10191400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr8:10190200-10191400	Enhancers	Rectal Smooth Muscle	rectum
39	chr8:10190200-10191600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr8:10190200-10191600	Enhancers	Adipose Nuclei	Adipose
41	chr8:10190200-10191600	Enhancers	Colon Smooth Muscle	Colon
42	chr8:10190200-10191600	Enhancers	Duodenum Mucosa	Duodenum
43	chr8:10190200-10191800	Enhancers	Primary hematopoietic stem cells	blood
44	chr8:10190200-10191800	Weak transcription	Colonic Mucosa	Colon
45	chr8:10190200-10191800	Enhancers	Thymus	Thymus
46	chr8:10190200-10191800	Flanking Active TSS	GM12878-XiMat	blood
47	chr8:10190200-10192000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr8:10190200-10192000	Enhancers	Primary B cells from peripheral blood	blood
49	chr8:10190400-10190800	Enhancers	NHDF-Ad	bronchial
50	chr8:10190400-10191000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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