Variant report

Variant	rs1038353
Chromosome Location	chr8:61670476-61670477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61669703..61672145-chr8:61675669..61677557,2	MCF-7	breast:
2	chr8:61669414..61671448-chr8:61672725..61675279,2	K562	blood:
3	chr8:61665265..61668192-chr8:61670388..61672627,2	K562	blood:
4	chr8:61670411..61672225-chr8:61822599..61825591,2	MCF-7	breast:
5	chr8:61626599..61628181-chr8:61670107..61672141,2	MCF-7	breast:
6	chr8:61670218..61671874-chr8:61679473..61681886,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254777	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10088263	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10957159	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10957160	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11775560	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12056700	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13255052	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13256023	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs13278198	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2326597	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34022185	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34345692	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35149496	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35254359	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35687554	0.81[AMR][1000 genomes]
rs35914442	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6471897	0.83[YRI][hapmap]
rs6471898	0.85[YRI][hapmap]
rs6471900	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6471904	0.83[AMR][1000 genomes]
rs67670110	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6987611	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6988835	0.83[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6989150	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6994642	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7460516	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7823926	0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7833957	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7846314	0.99[ASN][1000 genomes]
rs9298041	0.83[ASN][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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv1797364	chr8:61658362-61696231	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61655600-61671400	Weak transcription	Hela-S3	cervix
2	chr8:61656000-61678000	Weak transcription	Fetal Intestine Small	intestine
3	chr8:61657000-61690400	Weak transcription	HepG2	liver
4	chr8:61658400-61683200	Weak transcription	Fetal Intestine Large	intestine
5	chr8:61661200-61679000	Weak transcription	Small Intestine	intestine
6	chr8:61664400-61671200	Weak transcription	Brain Angular Gyrus	brain
7	chr8:61664600-61679600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:61664800-61671800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:61665000-61671200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:61665000-61671200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:61665000-61671200	Weak transcription	HUVEC	blood vessel
12	chr8:61665000-61671800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:61665000-61671800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:61665000-61671800	Weak transcription	Fetal Brain Male	brain
15	chr8:61665000-61672000	Weak transcription	Right Atrium	heart
16	chr8:61665000-61674400	Weak transcription	Primary B cells from cord blood	blood
17	chr8:61665000-61674800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:61665000-61677600	Weak transcription	Psoas Muscle	Psoas
19	chr8:61665000-61681000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:61665200-61671800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:61665200-61674800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:61665200-61674800	Weak transcription	Left Ventricle	heart
23	chr8:61665200-61677200	Weak transcription	Fetal Thymus	thymus
24	chr8:61665400-61674400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:61665600-61671200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:61665600-61671200	Weak transcription	Brain Anterior Caudate	brain
27	chr8:61665600-61671400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:61665600-61671400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:61665600-61671400	Weak transcription	GM12878-XiMat	blood
30	chr8:61665600-61672000	Weak transcription	Fetal Brain Female	brain
31	chr8:61665600-61674800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr8:61665800-61671200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:61665800-61671200	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:61665800-61671200	Weak transcription	Dnd41	blood
35	chr8:61665800-61671200	Weak transcription	K562	blood
36	chr8:61665800-61679000	Weak transcription	Adipose Nuclei	Adipose
37	chr8:61666000-61671200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:61666000-61671600	Weak transcription	HSMMtube	muscle
39	chr8:61666000-61672000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr8:61666000-61672400	Weak transcription	Primary T cells from cord blood	blood
41	chr8:61666200-61671200	Weak transcription	Brain Substantia Nigra	brain
42	chr8:61666400-61671800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:61666800-61670600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:61666800-61671200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:61666800-61671600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr8:61667200-61671200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:61667200-61674600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:61667400-61674200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr8:61667600-61671200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:61668600-61671400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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