Variant report

Variant	rs554499967
Chromosome Location	chr22:29385183-29385184
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	TAF1	chr22:29385088-29385426	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr22:29385052-29385415	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr22:29385042-29385404	H1-hESC	embryonic stem cell:	n/a	chr22:29385121-29385131
4	MYC	chr22:29385010-29385362	H1-hESC	embryonic stem cell:	n/a	chr22:29385121-29385131
5	TBP	chr22:29384996-29385357	H1-hESC	embryonic stem cell:	n/a	n/a
6	E2F6	chr22:29384787-29385526	H1-hESC	embryonic stem cell:	n/a	chr22:29385458-29385468
7	JUND	chr22:29384796-29385609	H1-hESC	embryonic stem cell:	n/a	chr22:29384920-29384932
8	MAX	chr22:29385026-29385426	H1-hESC	embryonic stem cell:	n/a	chr22:29385121-29385131
9	POLR2A	chr22:29385052-29385390	H1-hESC	embryonic stem cell:	n/a	n/a
10	E2F6	chr22:29384955-29385468	H1-hESC	embryonic stem cell:	n/a	chr22:29385458-29385468
11	MAX	chr22:29384912-29385468	H1-hESC	embryonic stem cell:	n/a	chr22:29385121-29385131
12	GTF2F1	chr22:29385135-29385469	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29380991..29382745-chr22:29384341..29385877,2	K562	blood:
2	chr22:29381053..29382745-chr22:29384377..29385897,2	K562	blood:

Variant related genes	Relation type
ZNRF3-IT1	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv16903	chr22:29383848-29386970	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29365800-29394800	Weak transcription	Pancreas	Pancrea
2	chr22:29373400-29390800	Weak transcription	Hela-S3	cervix
3	chr22:29373600-29400200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr22:29374400-29395200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr22:29374600-29395600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr22:29374600-29400000	Weak transcription	Right Ventricle	heart
7	chr22:29374600-29401200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr22:29375200-29385200	Weak transcription	Brain Substantia Nigra	brain
9	chr22:29375600-29390800	Weak transcription	NHDF-Ad	bronchial
10	chr22:29375800-29395400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:29378000-29385400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr22:29379600-29388400	Weak transcription	Psoas Muscle	Psoas
13	chr22:29379600-29400800	Weak transcription	Fetal Brain Female	brain
14	chr22:29380000-29388400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr22:29380800-29400800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr22:29381000-29385200	Genic enhancers	HepG2	liver
17	chr22:29381000-29386600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr22:29381000-29388400	Weak transcription	Fetal Heart	heart
19	chr22:29381000-29393000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr22:29381000-29395600	Weak transcription	Esophagus	oesophagus
21	chr22:29381200-29400400	Weak transcription	Lung	lung
22	chr22:29381400-29389400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr22:29381600-29386000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr22:29381600-29389000	Weak transcription	Dnd41	blood
25	chr22:29381600-29395400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr22:29381800-29388400	Weak transcription	Placenta	Placenta
27	chr22:29381800-29388400	Weak transcription	HSMMtube	muscle
28	chr22:29381800-29390600	Weak transcription	Colonic Mucosa	Colon
29	chr22:29382000-29387400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:29382000-29400200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr22:29382200-29385400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr22:29382400-29393200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:29383000-29385800	Strong transcription	Liver	Liver
34	chr22:29383000-29390000	Strong transcription	Fetal Intestine Small	intestine
35	chr22:29383200-29385600	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr22:29383200-29386200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr22:29383200-29386200	Strong transcription	Fetal Intestine Large	intestine
38	chr22:29383200-29390000	Strong transcription	Fetal Stomach	stomach
39	chr22:29383400-29385400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr22:29383400-29387200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr22:29383400-29388400	Weak transcription	Gastric	stomach
42	chr22:29383400-29388600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr22:29383400-29400200	Weak transcription	Right Atrium	heart
44	chr22:29383600-29385400	Strong transcription	Fetal Muscle Leg	muscle
45	chr22:29383600-29400400	Weak transcription	Aorta	Aorta
46	chr22:29383800-29385400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr22:29383800-29385600	Enhancers	Fetal Kidney	kidney
48	chr22:29383800-29386400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr22:29383800-29386400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr22:29383800-29388600	Weak transcription	Ovary	ovary

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