Variant report

Variant	rs531599746
Chromosome Location	chr22:30970159-30970160
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	chr22:30967837-30970461	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr22:30970092-30970578	GM12892	blood:	n/a	n/a
3	SP1	chr22:30969784-30970339	A549	lung:	n/a	chr22:30970285-30970299
4	POLR2A	chr22:30969312-30970369	K562	blood:	n/a	n/a
5	POLR2A	chr22:30969819-30972027	HepG2	liver:	n/a	n/a
6	POLR2A	chr22:30969745-30970209	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr22:30970084-30970326	K562	blood:	n/a	n/a
8	TCF12	chr22:30969801-30970209	A549	lung:	n/a	n/a
9	HDAC2	chr22:30970135-30970506	HepG2	liver:	n/a	n/a
10	POLR2A	chr22:30969231-30970548	GM12891	blood:	n/a	n/a
11	POLR2A	chr22:30969654-30970407	HepG2	liver:	n/a	n/a
12	POLR2A	chr22:30969258-30970396	GM12891	blood:	n/a	n/a
13	MAZ	chr22:30970042-30970416	HepG2	liver:	n/a	n/a
14	SP1	chr22:30969865-30970389	A549	lung:	n/a	chr22:30970285-30970299
15	MXI1	chr22:30969505-30970562	HepG2	liver:	n/a	n/a
16	POLR2A	chr22:30969812-30970478	GM12878	blood:	n/a	n/a
17	RCOR1	chr22:30969977-30970275	HepG2	liver:	n/a	n/a
18	POLR2A	chr22:30969881-30970702	A549	lung:	n/a	n/a
19	MAX	chr22:30968748-30970564	A549	lung:	n/a	chr22:30968918-30968928
20	CHD2	chr22:30969929-30970176	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30969461..30973158-chr22:30985013..30988022,5	MCF-7	breast:
2	chr22:30968308..30971950-chr22:30982173..30985267,5	K562	blood:
3	chr22:30968228..30973884-chr22:30985019..30988219,5	MCF-7	breast:

Variant related genes	Relation type
GAL3ST1	TF binding region
ENSG00000100029	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv588887	chr22:30953521-30995356	Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3377293	chr22:30969852-30971750	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30964400-30979600	Weak transcription	K562	blood
2	chr22:30965600-30971000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr22:30967000-30970200	Enhancers	Liver	Liver
4	chr22:30967000-30971600	Enhancers	Placenta	Placenta
5	chr22:30967600-30970600	Weak transcription	Right Atrium	heart
6	chr22:30967800-30970200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr22:30967800-30970200	Flanking Active TSS	HepG2	liver
8	chr22:30967800-30971200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr22:30968000-30971600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:30968200-30970200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr22:30968400-30970200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr22:30968400-30971200	Weak transcription	Dnd41	blood
13	chr22:30968600-30971200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr22:30968800-30970200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr22:30968800-30970200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr22:30968800-30971000	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr22:30968800-30971200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr22:30968800-30971200	Weak transcription	HMEC	breast
19	chr22:30968800-30971800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr22:30969000-30970200	Flanking Active TSS	Fetal Intestine Small	intestine
21	chr22:30969000-30971000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr22:30969000-30971200	Enhancers	Lung	lung
23	chr22:30969000-30971400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr22:30969000-30971600	Active TSS	Rectal Smooth Muscle	rectum
25	chr22:30969200-30970400	Enhancers	Fetal Brain Male	brain
26	chr22:30969400-30970200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr22:30969400-30970200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:30969400-30970200	Flanking Active TSS	Stomach Mucosa	stomach
29	chr22:30969400-30971000	Active TSS	Brain Anterior Caudate	brain
30	chr22:30969400-30971000	Weak transcription	GM12878-XiMat	blood
31	chr22:30969400-30971000	Enhancers	HSMM	muscle
32	chr22:30969600-30970200	Enhancers	HSMMtube	muscle
33	chr22:30969600-30970400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr22:30969600-30970400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr22:30969600-30970800	Active TSS	Brain Germinal Matrix	brain
36	chr22:30969600-30971000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr22:30969600-30971000	Active TSS	Brain Angular Gyrus	brain
38	chr22:30969600-30971000	Active TSS	Brain Cingulate Gyrus	brain
39	chr22:30969600-30971000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr22:30969600-30971200	Active TSS	Brain Substantia Nigra	brain
41	chr22:30969800-30970200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr22:30969800-30970200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
43	chr22:30969800-30970200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
44	chr22:30969800-30970400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr22:30969800-30970400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr22:30969800-30970400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr22:30969800-30970400	Enhancers	Esophagus	oesophagus
48	chr22:30969800-30970400	Active TSS	Fetal Kidney	kidney
49	chr22:30969800-30970400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
50	chr22:30969800-30970400	Flanking Active TSS	Pancreas	Pancrea

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