Variant report

Variant	rs67614695
Chromosome Location	chr8:68403559-68403560
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:68250610..68251504-chr8:68402662..68403659,2	K562	blood:
2	chr8:68395910..68398286-chr8:68401570..68404368,2	MCF-7	breast:
3	chr8:68254537..68256412-chr8:68401208..68404099,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSPP1-1	chr8:68403200-68404082	ENSG00000245424
2	lnc-CSPP1-1	chr8:68403200-68404103	NONHSAT127083

Variant related genes	Relation type
ENSG00000066777	Chromatin interaction
ENSG00000271966	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1032815	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10957388	0.83[EUR][1000 genomes]
rs11776371	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11779485	0.88[EUR][1000 genomes]
rs11779486	0.88[EUR][1000 genomes]
rs11780191	0.88[EUR][1000 genomes]
rs11781706	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13251265	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13263838	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13271535	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13276447	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13278805	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1393898	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1393899	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1393900	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1393901	0.83[EUR][1000 genomes]
rs1393902	0.84[EUR][1000 genomes]
rs1393903	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1503363	0.90[EUR][1000 genomes]
rs1503364	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1503365	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1503366	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1503368	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1503369	0.84[EUR][1000 genomes]
rs16933333	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17429185	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1827524	0.83[EUR][1000 genomes]
rs1875714	0.83[EUR][1000 genomes]
rs1994221	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2014477	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34035500	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34371052	0.86[EUR][1000 genomes]
rs34397090	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34709633	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34860297	0.87[EUR][1000 genomes]
rs35007850	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35392939	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35523866	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4737834	0.87[EUR][1000 genomes]
rs4737835	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4737838	0.83[EUR][1000 genomes]
rs60625302	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6472309	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6472312	0.90[EUR][1000 genomes]
rs66468629	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6994135	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6996113	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7008297	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7010517	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7014478	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7815069	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7820882	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7821010	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7821161	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7821969	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7822207	0.87[EUR][1000 genomes]
rs7827961	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7834690	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs905529	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][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	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68398800-68403800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:68402200-68405000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:68402400-68405600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:68402600-68403600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:68402600-68404200	Weak transcription	Fetal Lung	lung
6	chr8:68402600-68404200	Weak transcription	NHDF-Ad	bronchial
7	chr8:68402600-68404600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:68402600-68404800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:68402600-68404800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:68402600-68405000	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:68402600-68405400	Weak transcription	NHLF	lung
12	chr8:68402600-68405600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:68402600-68423000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:68402800-68412400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:68403000-68405600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:68403000-68405600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:68403000-68407000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:68403400-68404400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:68403400-68405600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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