Variant report

No.	Distal block	Cell Line	Cell type
1	chr9:71388257..71390428-chr9:71458098..71459800,2	K562	blood:
2	chr9:71388169..71391635-chr9:71392576..71396316,4	MCF-7	breast:
3	chr9:71362013..71363947-chr9:71388418..71390450,2	K562	blood:

Variant related genes	Relation type
ENSG00000236733	Chromatin interaction
ENSG00000187866	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11143615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11143622	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11143638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143706	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11143732	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11143734	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11143833	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11143868	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11143893	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11143900	0.86[ASN][1000 genomes]
rs11143991	0.91[EUR][1000 genomes]
rs11143995	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11143997	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11144031	1.00[EUR][1000 genomes]
rs11144059	0.80[ASN][1000 genomes]
rs11144102	1.00[EUR][1000 genomes]
rs11144115	1.00[EUR][1000 genomes]
rs12236602	0.91[EUR][1000 genomes]
rs6560369	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7866988	0.87[ASN][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	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71378400-71394200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:71378800-71393800	Weak transcription	Primary B cells from cord blood	blood
3	chr9:71378800-71393800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr9:71379000-71389000	Weak transcription	K562	blood
5	chr9:71383600-71393800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr9:71383800-71393600	Weak transcription	Left Ventricle	heart
7	chr9:71384000-71394200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr9:71385600-71393800	Weak transcription	Small Intestine	intestine
9	chr9:71385800-71393400	Weak transcription	Fetal Intestine Small	intestine
10	chr9:71385800-71393800	Weak transcription	Right Ventricle	heart
11	chr9:71386200-71393600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr9:71386400-71390200	Enhancers	Fetal Heart	heart
13	chr9:71386400-71392000	Weak transcription	Stomach Mucosa	stomach
14	chr9:71386600-71393200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:71387000-71394200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr9:71387200-71393800	Weak transcription	Fetal Intestine Large	intestine
17	chr9:71387400-71390000	Weak transcription	Aorta	Aorta
18	chr9:71388600-71389800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr9:71388800-71389200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:71388800-71389200	Enhancers	Rectal Mucosa Donor 31	rectum

Quick Search: