Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:25407023..25408916-chr12:25537088..25539171,2	K562	blood:
2	chr12:25402631..25405304-chr12:25406017..25408591,2	K562	blood:

Variant related genes	Relation type
ENSG00000133703	Chromatin interaction

rSNPs within LD-proxies of this variant (count:5)

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	nsv898922	chr12:25274593-25408047	Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised 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
2	nsv898926	chr12:25367669-25408047	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv898927	chr12:25389220-25408047	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11047921	APOBEC3H	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25405000-25408600	Weak transcription	Liver	Liver
2	chr12:25405000-25408600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:25405000-25409600	Weak transcription	Fetal Kidney	kidney
4	chr12:25405000-25409800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:25405000-25409800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:25405000-25410400	Enhancers	HepG2	liver
7	chr12:25405200-25409000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:25405200-25409600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:25405600-25408800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:25405600-25409600	Weak transcription	Placenta	Placenta
11	chr12:25406400-25410000	Enhancers	Fetal Intestine Small	intestine
12	chr12:25406400-25410200	Enhancers	Fetal Intestine Large	intestine
13	chr12:25406600-25410200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:25406800-25408400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:25406800-25410200	Enhancers	Stomach Mucosa	stomach
16	chr12:25407600-25410000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr12:25407600-25410400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:25407800-25408600	Weak transcription	Pancreas	Pancrea
19	chr12:25407800-25409400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:25407800-25409800	Weak transcription	Gastric	stomach

Quick Search: