Variant report

Variant	rs4612753
Chromosome Location	chr11:46720268-46720269
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	POLR2A	chr11:46719787-46720552	K562	blood:	n/a	n/a
2	POLR2A	chr11:46720165-46720603	HepG2	liver:	n/a	n/a
3	EGR1	chr11:46720186-46720501	K562	blood:	n/a	chr11:46720307-46720322 chr11:46720308-46720321 chr11:46720309-46720320
4	HEY1	chr11:46720153-46720572	K562	blood:	n/a	n/a
5	POLR2A	chr11:46718992-46723057	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:46720194-46720763	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:46720266-46720283	GM12878	blood:	n/a	n/a
8	EGR1	chr11:46720205-46720479	K562	blood:	n/a	chr11:46720307-46720322 chr11:46720308-46720321 chr11:46720309-46720320
9	POLR2A	chr11:46720202-46720984	IMR90	lung:	n/a	n/a
10	HEY1	chr11:46720123-46720624	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:46693461..46695712-chr11:46719149..46721277,2	K562	blood:
2	chr11:46719204..46720865-chr11:46763113..46765630,2	K562	blood:
3	chr11:46719334..46721887-chr11:46846857..46848981,2	MCF-7	breast:
4	chr11:46141950..46143787-chr11:46718847..46721759,2	K562	blood:
5	chr11:46697477..46699020-chr11:46719350..46720930,2	K562	blood:
6	chr11:46687606..46689855-chr11:46719361..46722282,2	K562	blood:

Variant related genes	Relation type
ZNF408	TF binding region
ARHGAP1	TF binding region
ENSG00000135365	Chromatin interaction
ENSG00000175216	Chromatin interaction
ENSG00000175224	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46697200-46721200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:46702600-46721400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:46703000-46721400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:46714600-46720600	Genic enhancers	Placenta	Placenta
5	chr11:46715200-46721200	Genic enhancers	Fetal Muscle Leg	muscle
6	chr11:46715600-46720400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:46717000-46721000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:46717400-46720400	Enhancers	HepG2	liver
9	chr11:46717400-46720600	Weak transcription	Hela-S3	cervix
10	chr11:46717400-46720800	Enhancers	Psoas Muscle	Psoas
11	chr11:46717400-46721200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:46717400-46721200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:46717400-46721200	Weak transcription	Fetal Kidney	kidney
14	chr11:46717400-46721200	Enhancers	Left Ventricle	heart
15	chr11:46717400-46721400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:46717600-46720800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:46717600-46720800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr11:46717600-46720800	Weak transcription	HUVEC	blood vessel
19	chr11:46717600-46721200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:46717600-46721200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:46717800-46720800	Enhancers	Liver	Liver
22	chr11:46717800-46721200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:46718000-46720400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr11:46718000-46720600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:46718000-46720600	Weak transcription	Fetal Lung	lung
26	chr11:46718000-46720800	Enhancers	Right Ventricle	heart
27	chr11:46718000-46721200	Weak transcription	Aorta	Aorta
28	chr11:46718000-46721200	Enhancers	Esophagus	oesophagus
29	chr11:46718000-46721200	Enhancers	Ovary	ovary
30	chr11:46718000-46721400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:46718200-46720600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr11:46718200-46720800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:46718200-46720800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:46718400-46721200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:46718400-46721200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr11:46718600-46720400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr11:46718600-46720600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:46718600-46720600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:46718600-46720600	Enhancers	HSMMtube	muscle
40	chr11:46718600-46720800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:46718600-46720800	Enhancers	Right Atrium	heart
42	chr11:46718600-46720800	Weak transcription	Thymus	Thymus
43	chr11:46718600-46721000	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr11:46718600-46721200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr11:46718600-46721200	Enhancers	Stomach Mucosa	stomach
46	chr11:46718600-46721400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr11:46718600-46721400	Enhancers	Pancreas	Pancrea
48	chr11:46718600-46721600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:46718800-46720400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:46718800-46720400	Genic enhancers	Rectal Mucosa Donor 31	rectum

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