Variant report

Variant	rs2975668
Chromosome Location	chr8:10128539-10128540
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10118764..10122817-chr8:10126495..10130448,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2004678	0.83[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.86[LWK][hapmap];0.83[MKK][hapmap];0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2952166	1.00[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.88[MEX][hapmap];0.87[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2952174	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2952175	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2952177	0.83[ASN][1000 genomes]
rs2952180	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2952182	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2975640	0.83[ASN][1000 genomes]
rs2975641	0.83[ASN][1000 genomes]
rs2975645	0.89[ASN][1000 genomes]
rs2975659	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2975670	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2975676	1.00[CHB][hapmap];0.80[CHD][hapmap];0.87[JPT][hapmap]
rs2975677	1.00[CHB][hapmap];0.80[JPT][hapmap];0.90[ASN][1000 genomes]
rs2975678	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4240637	0.90[CHD][hapmap]
rs4490835	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4504640	0.92[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4841305	0.83[CHB][hapmap]
rs4841306	0.85[CHD][hapmap]
rs6997416	0.85[CHD][hapmap]

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
rs2975668	MFHAS1	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10123000-10138400	Weak transcription	Spleen	Spleen
2	chr8:10123600-10135400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:10125400-10129600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:10125600-10130600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:10125600-10136000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:10125800-10129600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:10126200-10129000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:10126200-10130000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:10126600-10132400	Enhancers	Fetal Brain Male	brain
10	chr8:10127200-10129400	Weak transcription	Brain Germinal Matrix	brain
11	chr8:10127400-10129000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:10127600-10130400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:10127800-10128800	Enhancers	Brain Substantia Nigra	brain
14	chr8:10128000-10128600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr8:10128000-10129000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:10128000-10129000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:10128000-10129800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:10128200-10128600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:10128200-10128600	Enhancers	HUVEC	blood vessel
20	chr8:10128200-10137000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:10128400-10129600	Weak transcription	Psoas Muscle	Psoas
22	chr8:10128400-10129600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:10128400-10130000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:10128400-10132200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:10128400-10133600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:10128400-10138200	Weak transcription	Fetal Brain Female	brain

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