Variant report

Variant	rs7838901
Chromosome Location	chr8:10207274-10207275
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10203991..10206007-chr8:10207098..10209172,2	K562	blood:
2	chr8:10205661..10208295-chr8:10208819..10211116,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10283145	1.00[CHB][hapmap]
rs17708276	1.00[JPT][hapmap]
rs17709397	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs17765901	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs28406568	0.84[ASN][1000 genomes]
rs28507213	0.84[ASN][1000 genomes]
rs28712068	0.84[ASN][1000 genomes]
rs2952172	0.85[CEU][hapmap]
rs2952183	1.00[CHB][hapmap]
rs2952184	1.00[CHB][hapmap]
rs2952185	1.00[CHB][hapmap]
rs2952186	1.00[CHB][hapmap]
rs2952189	1.00[CHB][hapmap]
rs2975675	1.00[CHB][hapmap]
rs4260895	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs4433149	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs4610752	1.00[CHB][hapmap]
rs55768139	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6601426	1.00[CHB][hapmap]
rs6601443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601451	1.00[CHB][hapmap]
rs6982308	0.92[ASN][1000 genomes]
rs73195303	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7818437	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7824675	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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
7	nsv527326	chr8:10199548-10320019	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv1018940	chr8:10200886-10220973	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7838901	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10192600-10282400	Weak transcription	Gastric	stomach
2	chr8:10193000-10215400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:10193000-10235000	Weak transcription	Pancreas	Pancrea
4	chr8:10193600-10220400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:10196800-10208000	Weak transcription	Adipose Nuclei	Adipose
6	chr8:10196800-10214200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:10196800-10228000	Weak transcription	Liver	Liver
8	chr8:10200800-10207400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:10201800-10208200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:10201800-10221800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:10202400-10207400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:10203000-10208200	Weak transcription	Lung	lung
13	chr8:10203800-10208200	Weak transcription	Right Ventricle	heart
14	chr8:10204000-10219800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:10204200-10207400	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:10204200-10207800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:10204200-10208000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:10204200-10210400	Weak transcription	Right Atrium	heart
19	chr8:10204400-10221800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:10204600-10208200	Weak transcription	Psoas Muscle	Psoas
21	chr8:10204600-10209600	Weak transcription	Left Ventricle	heart
22	chr8:10204800-10207600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:10205000-10207600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:10205400-10207400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:10206000-10213600	Enhancers	Fetal Brain Male	brain
26	chr8:10206200-10207400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr8:10206200-10208600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr8:10206200-10222800	Weak transcription	Aorta	Aorta
29	chr8:10206400-10209800	Enhancers	Fetal Brain Female	brain
30	chr8:10206400-10210200	Enhancers	Primary T cells from cord blood	blood
31	chr8:10206600-10209800	Weak transcription	Fetal Heart	heart
32	chr8:10206800-10207600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:10206800-10208000	Enhancers	Spleen	Spleen
34	chr8:10206800-10208200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:10206800-10209600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:10206800-10214600	Enhancers	Fetal Thymus	thymus
37	chr8:10207000-10208200	Weak transcription	Thymus	Thymus
38	chr8:10207000-10208600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr8:10207000-10209200	Enhancers	Primary hematopoietic stem cells	blood
40	chr8:10207000-10210400	Weak transcription	Brain Germinal Matrix	brain
41	chr8:10207000-10210800	Enhancers	Fetal Muscle Trunk	muscle
42	chr8:10207000-10211200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:10207200-10208200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:10207200-10208600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr8:10207200-10208600	Enhancers	HepG2	liver

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