Variant report

Variant	rs6468938
Chromosome Location	chr8:105599576-105599577
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr8:105597872-105601900	GM12878	blood:	n/a	chr8:105601730-105601740
2	WRNIP1	chr8:105598983-105599914	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:105596596-105602930	K562	blood:	n/a	n/a
4	TBP	chr8:105597820-105600273	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:105599384-105599705	GM12878	blood:	n/a	n/a
6	CUX1	chr8:105599399-105600275	K562	blood:	n/a	n/a
7	POLR2A	chr8:105597878-105602244	GM12878	blood:	n/a	n/a
8	MXI1	chr8:105598816-105602682	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:105583573..105585685-chr8:105598077..105599877,2	K562	blood:
2	chr8:105565178..105567381-chr8:105597153..105599899,2	K562	blood:
3	chr8:105599361..105601982-chr8:105602248..105604776,3	MCF-7	breast:
4	chr8:105587608..105589528-chr8:105597267..105600152,2	K562	blood:

Variant related genes	Relation type
ENSG00000253350	TF binding region
ENSG00000253350	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10505059	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10505061	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986052	1.00[EUR][1000 genomes]
rs1347780	1.00[EUR][1000 genomes]
rs16871487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871527	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16871528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871540	1.00[AMR][1000 genomes]
rs16871542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871547	1.00[EUR][1000 genomes]
rs16871570	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871573	1.00[EUR][1000 genomes]
rs16871574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871583	1.00[EUR][1000 genomes]
rs16871604	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16871610	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16871627	1.00[EUR][1000 genomes]
rs16871629	1.00[EUR][1000 genomes]
rs16871659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871756	1.00[AMR][1000 genomes]
rs16871785	1.00[AMR][1000 genomes]
rs4476984	1.00[AMR][1000 genomes]
rs4478539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4492340	0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58610142	1.00[EUR][1000 genomes]
rs59552566	1.00[EUR][1000 genomes]
rs59666618	1.00[EUR][1000 genomes]
rs6468931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468936	0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6981436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6981448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6982444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6982693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6985345	1.00[EUR][1000 genomes]
rs6986610	1.00[AMR][1000 genomes]
rs6986854	0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6997991	1.00[EUR][1000 genomes]
rs6998138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7000469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7005906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009354	1.00[AMR][1000 genomes]
rs7009946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010874	1.00[AMR][1000 genomes]
rs73293241	1.00[EUR][1000 genomes]
rs73293264	1.00[EUR][1000 genomes]
rs73297124	1.00[EUR][1000 genomes]
rs73299103	1.00[EUR][1000 genomes]
rs73299117	1.00[EUR][1000 genomes]
rs73299119	1.00[EUR][1000 genomes]
rs73299120	1.00[EUR][1000 genomes]
rs73299126	1.00[EUR][1000 genomes]
rs7813227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7813553	1.00[EUR][1000 genomes]
rs7813838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7814211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7814284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7815131	1.00[EUR][1000 genomes]
rs7815196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7817448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7817730	1.00[AMR][1000 genomes]
rs7819632	1.00[AMR][1000 genomes]
rs7819974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820552	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821042	0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7832076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7832455	0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7835029	1.00[EUR][1000 genomes]
rs7836110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7837072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7837076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7841549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7845240	1.00[AMR][1000 genomes]
rs9694695	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105584200-105600000	Weak transcription	Aorta	Aorta
2	chr8:105595800-105599600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:105597200-105599600	Weak transcription	Fetal Lung	lung
4	chr8:105597600-105600000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:105597800-105599600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:105597800-105599600	Enhancers	Fetal Brain Male	brain
7	chr8:105597800-105599600	Flanking Active TSS	K562	blood
8	chr8:105598000-105599800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr8:105598000-105600000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:105598000-105600000	Enhancers	Fetal Heart	heart
11	chr8:105598200-105599800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:105598200-105600000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:105598200-105600000	Enhancers	Fetal Intestine Small	intestine
14	chr8:105598400-105599800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:105598400-105599800	Weak transcription	HSMMtube	muscle
16	chr8:105598600-105599600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr8:105598600-105599600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:105598600-105599600	Enhancers	Osteobl	bone
19	chr8:105598600-105599800	Flanking Active TSS	Fetal Brain Female	brain
20	chr8:105598600-105599800	Weak transcription	HSMM	muscle
21	chr8:105598600-105602400	Active TSS	GM12878-XiMat	blood
22	chr8:105598800-105599600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
23	chr8:105598800-105599600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr8:105598800-105599600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr8:105598800-105599600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:105598800-105599600	Enhancers	Brain Angular Gyrus	brain
27	chr8:105598800-105599600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr8:105598800-105599600	Enhancers	NH-A	brain
29	chr8:105598800-105599600	Enhancers	NHEK	skin
30	chr8:105598800-105599800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:105598800-105599800	Enhancers	HMEC	breast
32	chr8:105598800-105600000	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr8:105598800-105600600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:105598800-105602000	Active TSS	Brain Anterior Caudate	brain
35	chr8:105598800-105602000	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr8:105599000-105599600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:105599000-105599800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:105599000-105599800	Enhancers	A549	lung
39	chr8:105599000-105600000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:105599000-105600000	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr8:105599000-105600200	Enhancers	Fetal Stomach	stomach
42	chr8:105599000-105602000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:105599200-105599600	Enhancers	Fetal Kidney	kidney
44	chr8:105599200-105599600	Transcr. at gene 5' and 3'	Dnd41	blood
45	chr8:105599200-105599800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
46	chr8:105599200-105599800	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr8:105599200-105599800	Flanking Active TSS	Fetal Thymus	thymus
48	chr8:105599200-105600000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
49	chr8:105599200-105600000	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr8:105599200-105600200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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