Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33913064..33919897-chr6:33920862..33926806,7	K562	blood:
2	chr6:33916864..33919171-chr6:33930801..33933029,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2495961	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2495962	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2495968	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2499741	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs2499742	0.84[CEU][hapmap];0.82[GIH][hapmap];0.82[EUR][1000 genomes]
rs2499746	0.85[EUR][1000 genomes]
rs2499747	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2499748	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2499751	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2499752	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2499754	0.80[EUR][1000 genomes]
rs9394181	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916210	chr6:33804111-34144062	Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv462899	chr6:33880480-33944014	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv602841	chr6:33880480-33944014	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2499749	HMGA1	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33917800-33919200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr6:33917800-33919600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:33917800-33919600	Enhancers	Fetal Intestine Small	intestine
4	chr6:33917800-33920000	Enhancers	Fetal Intestine Large	intestine
5	chr6:33918000-33919000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr6:33918000-33919200	Enhancers	Duodenum Mucosa	Duodenum
7	chr6:33918000-33919200	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr6:33918000-33919400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:33918200-33919000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:33918200-33919400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:33918200-33919400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:33918200-33919600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr6:33918200-33919600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:33918400-33919200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr6:33918600-33919200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:33918800-33919000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:33918800-33919200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr6:33918800-33919200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr6:33918800-33919600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:33918800-33924400	Weak transcription	H9 Cell Line	embryonic stem cell

Quick Search: