Variant report

Variant	rs7001448
Chromosome Location	chr8:126257678-126257679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126255433..126260408-chr8:126440662..126444695,4	K562	blood:
2	chr8:126256636..126259049-chr8:126440977..126443965,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12681602	0.82[LWK][hapmap];0.88[MKK][hapmap];0.93[YRI][hapmap]
rs16900320	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16900487	1.00[CEU][hapmap]
rs28392978	1.00[EUR][1000 genomes]
rs56117234	1.00[EUR][1000 genomes]
rs56798105	1.00[EUR][1000 genomes]
rs56988673	1.00[EUR][1000 genomes]
rs57107402	1.00[EUR][1000 genomes]
rs57687393	1.00[EUR][1000 genomes]
rs57876250	1.00[EUR][1000 genomes]
rs58217279	1.00[EUR][1000 genomes]
rs58318216	1.00[EUR][1000 genomes]
rs58818314	1.00[EUR][1000 genomes]
rs59134934	1.00[EUR][1000 genomes]
rs59472229	1.00[EUR][1000 genomes]
rs59667546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60051203	1.00[EUR][1000 genomes]
rs60524861	1.00[EUR][1000 genomes]
rs6983990	1.00[EUR][1000 genomes]
rs6990205	1.00[EUR][1000 genomes]
rs6992378	1.00[EUR][1000 genomes]
rs6992389	1.00[EUR][1000 genomes]
rs73336865	1.00[EUR][1000 genomes]
rs73704923	1.00[EUR][1000 genomes]
rs73704928	1.00[EUR][1000 genomes]
rs73704930	1.00[EUR][1000 genomes]
rs73704939	1.00[EUR][1000 genomes]
rs73704957	1.00[EUR][1000 genomes]
rs7814242	1.00[EUR][1000 genomes]
rs7820192	1.00[EUR][1000 genomes]
rs7820336	1.00[EUR][1000 genomes]
rs7822467	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7834583	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7839038	1.00[EUR][1000 genomes]
rs7839468	1.00[EUR][1000 genomes]
rs868227	0.89[LWK][hapmap];0.97[MKK][hapmap];0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126226800-126260200	Weak transcription	Right Ventricle	heart
2	chr8:126233800-126264800	Weak transcription	Left Ventricle	heart
3	chr8:126239600-126274000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr8:126240400-126267000	Weak transcription	Primary T cells from cord blood	blood
5	chr8:126241400-126258000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:126243000-126260000	Weak transcription	GM12878-XiMat	blood
7	chr8:126243200-126267000	Weak transcription	Brain Angular Gyrus	brain
8	chr8:126245600-126269600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:126247200-126265200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:126249600-126258000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:126250200-126265000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:126251400-126272000	Weak transcription	Fetal Intestine Small	intestine
13	chr8:126251600-126265000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:126251600-126265200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:126254000-126270400	Weak transcription	Hela-S3	cervix
16	chr8:126255200-126268600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:126255200-126271600	Weak transcription	Right Atrium	heart
18	chr8:126255400-126287800	Weak transcription	Primary B cells from cord blood	blood
19	chr8:126256200-126271600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:126256400-126271800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:126256600-126268800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:126257400-126273600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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