Variant report

Variant	rs1800424
Chromosome Location	chr11:6423907-6423908
allele	C/T
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	POLR2A	chr11:6423839-6424273	GM12891	blood:	n/a	n/a
2	MAX	chr11:6423401-6424256	GM12878	blood:	n/a	chr11:6423587-6423600 chr11:6423589-6423598 chr11:6423589-6423598 chr11:6423587-6423600
3	PAX5	chr11:6423799-6424224	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:6423841-6424019	GM12878	blood:	n/a	n/a
5	NFIC	chr11:6423450-6424357	GM12878	blood:	n/a	n/a
6	SP1	chr11:6423829-6424272	GM12878	blood:	n/a	chr11:6424034-6424043 chr11:6424029-6424043
7	GABPA	chr11:6423880-6424204	GM12878	blood:	n/a	n/a
8	IRF4	chr11:6423798-6424307	GM12878	blood:	n/a	n/a
9	RUNX3	chr11:6423330-6424494	GM12878	blood:	n/a	n/a
10	SP1	chr11:6423795-6424272	GM12878	blood:	n/a	chr11:6424034-6424043 chr11:6424029-6424043
11	MYC	chr11:6423838-6424269	NB4	blood:	n/a	n/a
12	PAX5	chr11:6423777-6424166	GM12878	blood:	n/a	n/a
13	CHD2	chr11:6423529-6424293	GM12878	blood:	n/a	n/a
14	CEBPB	chr11:6423666-6424378	GM12878	blood:	n/a	n/a
15	ETS1	chr11:6423817-6424360	GM12878	blood:	n/a	n/a
16	TAF1	chr11:6423758-6424232	GM12878	blood:	n/a	n/a
17	FOXM1	chr11:6423724-6424326	GM12878	blood:	n/a	n/a
18	ATF2	chr11:6423784-6424277	GM12878	blood:	n/a	n/a
19	PAX5	chr11:6423683-6424335	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:6423849-6424064	GM12878	blood:	n/a	n/a
21	MXI1	chr11:6423566-6424148	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:6423856-6424292	GM12891	blood:	n/a	n/a
23	PML	chr11:6423814-6424261	GM12878	blood:	n/a	n/a
24	IKZF1	chr11:6423806-6424303	GM12878	blood:	n/a	n/a
25	RELA	chr11:6423867-6424264	GM18951	blood:	n/a	n/a
26	TCF3	chr11:6423731-6424214	GM12878	blood:	n/a	n/a
27	PAX5	chr11:6423899-6424150	GM12878	blood:	n/a	n/a
28	BATF	chr11:6423743-6424226	GM12878	blood:	n/a	chr11:6423989-6423999 chr11:6423988-6423999
29	EBF1	chr11:6423745-6424203	GM12878	blood:	n/a	n/a
30	MAZ	chr11:6423559-6424350	GM12878	blood:	n/a	chr11:6423587-6423600 chr11:6423589-6423598 chr11:6423589-6423598 chr11:6423587-6423600
31	NFIC	chr11:6423811-6424351	GM12878	blood:	n/a	n/a
32	WRNIP1	chr11:6423882-6424198	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:6423698-6424206	GM12891	blood:	n/a	n/a
34	NFATC1	chr11:6423724-6424236	GM12878	blood:	n/a	n/a
35	POU2F2	chr11:6423410-6424253	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:6423788-6424294	GM12891	blood:	n/a	n/a
37	FOXM1	chr11:6423627-6424409	GM12878	blood:	n/a	n/a
38	ATF2	chr11:6423650-6424338	GM12878	blood:	n/a	n/a
39	NFATC1	chr11:6423750-6424303	GM12878	blood:	n/a	n/a
40	POU2F2	chr11:6423811-6424278	GM12891	blood:	n/a	n/a
41	POLR2A	chr11:6423816-6424103	GM12878	blood:	n/a	n/a
42	STAT1	chr11:6423722-6424204	GM12878	blood:	n/a	n/a
43	PML	chr11:6423618-6424367	GM12878	blood:	n/a	n/a
44	MAX	chr11:6423502-6424218	NB4	blood:	n/a	chr11:6423587-6423600 chr11:6423589-6423598 chr11:6423589-6423598 chr11:6423587-6423600
45	PAX5	chr11:6423812-6424188	GM12878	blood:	n/a	n/a
46	RUNX3	chr11:6423332-6424578	GM12878	blood:	n/a	n/a
47	BCL11A	chr11:6423880-6424254	GM12878	blood:	n/a	n/a
48	ETS1	chr11:6423773-6424277	GM12878	blood:	n/a	n/a
49	TBL1XR1	chr11:6423755-6424295	GM12878	blood:	n/a	n/a
50	BCL3	chr11:6423800-6424276	GM12878	blood:	n/a	n/a

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	chr11:6416400-6439400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr11:6416400-6440000	Weak transcription	Liver	Liver
20	chr11:6416600-6426400	Weak transcription	Colonic Mucosa	Colon
21	chr11:6417800-6425600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:6418200-6424400	Genic enhancers	Brain Substantia Nigra	brain
23	chr11:6418800-6425000	Strong transcription	Aorta	Aorta
24	chr11:6419400-6425400	Strong transcription	Brain Germinal Matrix	brain
25	chr11:6419400-6435200	Weak transcription	Fetal Heart	heart
26	chr11:6419400-6439400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:6419600-6425200	Strong transcription	Fetal Intestine Large	intestine
28	chr11:6419600-6425400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:6419600-6425600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr11:6419600-6439400	Weak transcription	Osteobl	bone
31	chr11:6419800-6424800	Strong transcription	Fetal Lung	lung
32	chr11:6419800-6425600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:6419800-6425800	Strong transcription	Fetal Stomach	stomach
34	chr11:6420000-6424200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr11:6420000-6425000	Strong transcription	Lung	lung
36	chr11:6420000-6425600	Weak transcription	NHDF-Ad	bronchial
37	chr11:6420200-6424000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:6420400-6425600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:6420600-6425400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:6420600-6431200	Weak transcription	Ovary	ovary
41	chr11:6420800-6424200	Weak transcription	Fetal Brain Male	brain
42	chr11:6420800-6425400	Strong transcription	NHLF	lung
43	chr11:6420800-6426000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:6420800-6426600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:6421200-6425400	Genic enhancers	Brain Hippocampus Middle	brain
46	chr11:6421400-6425400	Strong transcription	Fetal Muscle Trunk	muscle
47	chr11:6421600-6425200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:6421800-6424200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:6421800-6424600	Strong transcription	Gastric	stomach
50	chr11:6421800-6425000	Strong transcription	Adipose Nuclei	Adipose

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