Variant report

Variant	rs10448028
Chromosome Location	chr8:63159013-63159014
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	REST	chr8:63158978-63159530	H1-neurons	neurons:	n/a	n/a
2	RAD21	chr8:63158991-63159402	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr8:63158767-63163709	H1-neurons	neurons:	n/a	chr8:63161625-63161643 chr8:63161765-63161775 chr8:63161624-63161644

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63157703..63161119-chr8:63165423..63168636,3	K562	blood:

Variant related genes	Relation type
NKAIN3	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10090048	0.82[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs10090129	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10094502	0.99[EUR][1000 genomes]
rs10095168	0.91[EUR][1000 genomes]
rs10099748	0.91[EUR][1000 genomes]
rs10101551	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1154592	0.92[EUR][1000 genomes]
rs11778470	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12548234	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12549042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12679323	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12681000	0.81[EUR][1000 genomes]
rs13249875	0.81[EUR][1000 genomes]
rs13250200	0.82[EUR][1000 genomes]
rs13252919	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13255752	0.92[EUR][1000 genomes]
rs13261910	0.88[EUR][1000 genomes]
rs13262465	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13264993	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13268451	0.89[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs13271280	0.91[EUR][1000 genomes]
rs13281158	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1351702	0.99[EUR][1000 genomes]
rs1384675	0.92[EUR][1000 genomes]
rs1384683	0.99[EUR][1000 genomes]
rs1384684	0.82[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs1483165	0.93[EUR][1000 genomes]
rs1483173	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1483177	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1552205	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2272014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2272015	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2351652	0.90[EUR][1000 genomes]
rs2351653	0.90[EUR][1000 genomes]
rs2882742	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4262319	0.99[EUR][1000 genomes]
rs4637821	0.91[EUR][1000 genomes]
rs4738948	0.99[EUR][1000 genomes]
rs5020321	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983788	0.99[EUR][1000 genomes]
rs7017869	0.93[EUR][1000 genomes]
rs7017975	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7827326	0.81[EUR][1000 genomes]
rs7834815	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs900491	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs900492	0.93[EUR][1000 genomes]
rs9298062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643536	0.93[EUR][1000 genomes]
rs9987255	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016883	chr8:63110741-63171354	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1019143	chr8:63142202-63390820	Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2757277	chr8:63156123-63260182	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv2759621	chr8:63156123-63260182	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63154200-63159400	Weak transcription	Fetal Brain Male	brain
2	chr8:63155400-63160600	Weak transcription	Pancreas	Pancrea
3	chr8:63158200-63159400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:63158400-63159400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:63158600-63159200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:63158600-63159600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr8:63158600-63159800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
8	chr8:63158800-63159400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr8:63158800-63160000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
10	chr8:63159000-63159200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:63159000-63159200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:63159000-63159200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
13	chr8:63159000-63159400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:63159000-63159400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:63159000-63159600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:63159000-63159800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr8:63159000-63160000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr8:63159000-63160400	Flanking Active TSS	Brain Germinal Matrix	brain

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