Variant report

Variant	rs138430111
Chromosome Location	chr11:6423563-6423564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr11:6423435-6423648	HepG2	liver:	n/a	chr11:6423583-6423604 chr11:6423587-6423598
2	MAX	chr11:6423401-6424256	GM12878	blood:	n/a	chr11:6423587-6423600 chr11:6423589-6423598 chr11:6423589-6423598 chr11:6423587-6423600
3	NFIC	chr11:6423450-6424357	GM12878	blood:	n/a	n/a
4	MAX	chr11:6423509-6423737	HepG2	liver:	n/a	chr11:6423587-6423600 chr11:6423589-6423598 chr11:6423589-6423598 chr11:6423587-6423600
5	RUNX3	chr11:6423330-6424494	GM12878	blood:	n/a	n/a
6	CHD2	chr11:6423529-6424293	GM12878	blood:	n/a	n/a
7	HNF4A	chr11:6423362-6423627	HepG2	liver:	n/a	chr11:6423488-6423503 chr11:6423490-6423502 chr11:6423489-6423503 chr11:6423485-6423507
8	BHLHE40	chr11:6423491-6423716	K562	blood:	n/a	chr11:6423583-6423604
9	RCOR1	chr11:6423503-6423574	HepG2	liver:	n/a	n/a
10	USF2	chr11:6423422-6423755	GM12878	blood:	n/a	chr11:6423583-6423604
11	MAZ	chr11:6423559-6424350	GM12878	blood:	n/a	chr11:6423587-6423600 chr11:6423589-6423598 chr11:6423589-6423598 chr11:6423587-6423600
12	USF2	chr11:6423403-6423768	HepG2	liver:	n/a	chr11:6423583-6423604
13	POU2F2	chr11:6423410-6424253	GM12878	blood:	n/a	n/a
14	USF1	chr11:6423342-6423773	GM12878	blood:	n/a	chr11:6423583-6423604 chr11:6423587-6423598
15	USF1	chr11:6423349-6423689	K562	blood:	n/a	chr11:6423583-6423604 chr11:6423587-6423598
16	MAX	chr11:6423502-6424218	NB4	blood:	n/a	chr11:6423587-6423600 chr11:6423589-6423598 chr11:6423589-6423598 chr11:6423587-6423600
17	BHLHE40	chr11:6423407-6423747	HepG2	liver:	n/a	chr11:6423583-6423604
18	RUNX3	chr11:6423332-6424578	GM12878	blood:	n/a	n/a
19	USF1	chr11:6423417-6423740	K562	blood:	n/a	chr11:6423583-6423604 chr11:6423587-6423598
20	HNF4A	chr11:6423331-6423641	HepG2	liver:	n/a	chr11:6423488-6423503 chr11:6423490-6423502 chr11:6423489-6423503 chr11:6423485-6423507
21	USF1	chr11:6423406-6423720	HepG2	liver:	n/a	chr11:6423583-6423604 chr11:6423587-6423598
22	POLR2A	chr11:6423272-6423785	GM12892	blood:	n/a	n/a
23	EP300	chr11:6423453-6423622	HepG2	liver:	n/a	n/a
24	USF1	chr11:6423407-6423722	GM12878	blood:	n/a	chr11:6423583-6423604 chr11:6423587-6423598
25	STAT5A	chr11:6423332-6424260	GM12878	blood:	n/a	n/a
26	MTA3	chr11:6423181-6424529	GM12878	blood:	n/a	n/a
27	BHLHE40	chr11:6423402-6424231	GM12878	blood:	n/a	chr11:6423583-6423604

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:6416395..6419140-chr11:6421836..6424422,2	K562	blood:

Variant related genes	Relation type
APBB1	TF binding region
ENSG00000166313	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv534152	chr11:6282812-6659230	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1046995	chr11:6339868-6658766	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv553371	chr11:6395690-6434465	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv3322713	chr11:6423376-6427874	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6412400-6425600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:6412600-6426000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:6412600-6427000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:6412800-6425600	Weak transcription	Fetal Kidney	kidney
5	chr11:6412800-6426200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:6412800-6439400	Weak transcription	HUVEC	blood vessel
7	chr11:6413000-6425200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:6413400-6425400	Strong transcription	Fetal Muscle Leg	muscle
9	chr11:6413400-6425600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:6413400-6439200	Weak transcription	Psoas Muscle	Psoas
11	chr11:6414200-6426200	Strong transcription	Fetal Intestine Small	intestine
12	chr11:6414600-6425600	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:6414800-6424200	Strong transcription	Fetal Brain Female	brain
14	chr11:6414800-6425400	Genic enhancers	Brain Cingulate Gyrus	brain
15	chr11:6414800-6434000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:6415200-6425400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:6415800-6427000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:6416000-6423800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr11:6416400-6439400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:6416400-6440000	Weak transcription	Liver	Liver
21	chr11:6416600-6426400	Weak transcription	Colonic Mucosa	Colon
22	chr11:6417800-6425600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:6418200-6424400	Genic enhancers	Brain Substantia Nigra	brain
24	chr11:6418800-6425000	Strong transcription	Aorta	Aorta
25	chr11:6419400-6423800	Weak transcription	NH-A	brain
26	chr11:6419400-6425400	Strong transcription	Brain Germinal Matrix	brain
27	chr11:6419400-6435200	Weak transcription	Fetal Heart	heart
28	chr11:6419400-6439400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:6419600-6425200	Strong transcription	Fetal Intestine Large	intestine
30	chr11:6419600-6425400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:6419600-6425600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr11:6419600-6439400	Weak transcription	Osteobl	bone
33	chr11:6419800-6424800	Strong transcription	Fetal Lung	lung
34	chr11:6419800-6425600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr11:6419800-6425800	Strong transcription	Fetal Stomach	stomach
36	chr11:6420000-6423600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:6420000-6424200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr11:6420000-6425000	Strong transcription	Lung	lung
39	chr11:6420000-6425600	Weak transcription	NHDF-Ad	bronchial
40	chr11:6420200-6424000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:6420400-6425600	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:6420600-6425400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:6420600-6431200	Weak transcription	Ovary	ovary
44	chr11:6420800-6424200	Weak transcription	Fetal Brain Male	brain
45	chr11:6420800-6425400	Strong transcription	NHLF	lung
46	chr11:6420800-6426000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:6420800-6426600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:6421200-6425400	Genic enhancers	Brain Hippocampus Middle	brain
49	chr11:6421400-6425400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr11:6421600-6423800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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