Variant report

Variant	rs4820018
Chromosome Location	chr22:30986172-30986173
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	chr22:30986058-30986331	H1-hESC	embryonic stem cell:	n/a	n/a
2	TAL1	chr22:30986160-30986285	K562	blood:	n/a	chr22:30986172-30986187
3	POLR2A	chr22:30986050-30988317	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr22:30985819-30986461	GM12878	blood:	n/a	n/a
5	POLR2A	chr22:30986049-30986462	GM12891	blood:	n/a	n/a
6	POLR2A	chr22:30985938-30986381	GM12891	blood:	n/a	n/a
7	POLR2A	chr22:30985477-30988298	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr22:30986101-30986259	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr22:30986073-30986362	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30968228..30973884-chr22:30985019..30988219,5	MCF-7	breast:
2	chr22:30984038..30987720-chr22:30992982..30995616,3	K562	blood:
3	chr22:30898269..30900043-chr22:30984977..30987505,2	K562	blood:
4	chr22:30969461..30973158-chr22:30985013..30988022,5	MCF-7	breast:
5	chr22:30970968..30972609-chr22:30985302..30987086,2	K562	blood:

Variant related genes	Relation type
PES1	TF binding region
ENSG00000128242	Chromatin interaction
ENSG00000223831	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2072197	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs42930	0.84[ASN][1000 genomes]
rs4820021	0.88[JPT][hapmap]
rs73396364	0.84[AFR][1000 genomes]

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	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30971000-30987200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30971400-30986200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr22:30972200-30986200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:30972200-30986600	Weak transcription	Right Atrium	heart
5	chr22:30972600-30986200	Weak transcription	Fetal Heart	heart
6	chr22:30973000-30986200	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr22:30974800-30986200	Strong transcription	Primary B cells from cord blood	blood
8	chr22:30978400-30986200	Strong transcription	Fetal Muscle Leg	muscle
9	chr22:30979600-30986200	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr22:30980000-30986200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:30980000-30986200	Strong transcription	HSMM	muscle
12	chr22:30982800-30986600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr22:30983000-30986600	Weak transcription	Stomach Mucosa	stomach
14	chr22:30984000-30986200	Weak transcription	Fetal Brain Male	brain
15	chr22:30984400-30986200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr22:30984400-30986200	Weak transcription	Hela-S3	cervix
17	chr22:30984400-30986400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr22:30984600-30986200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr22:30984600-30986200	Weak transcription	Small Intestine	intestine
20	chr22:30984600-30986600	Weak transcription	Fetal Kidney	kidney
21	chr22:30985000-30986200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr22:30985000-30987000	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr22:30985200-30986200	Weak transcription	Colonic Mucosa	Colon
24	chr22:30985200-30986200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr22:30985200-30986400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr22:30985200-30986400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr22:30985400-30986200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr22:30985400-30986200	Weak transcription	Fetal Lung	lung
29	chr22:30985400-30986200	Weak transcription	Right Ventricle	heart
30	chr22:30985400-30986200	Weak transcription	HSMMtube	muscle
31	chr22:30985400-30986200	Weak transcription	NHDF-Ad	bronchial
32	chr22:30985400-30986400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr22:30985400-30986400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr22:30985400-30986600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:30985400-30986600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr22:30985400-30986600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr22:30985400-30986800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr22:30985400-30986800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr22:30985400-30987000	Weak transcription	Placenta	Placenta
40	chr22:30985600-30986200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr22:30985600-30986200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr22:30985600-30986200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr22:30985600-30986200	Weak transcription	Liver	Liver
44	chr22:30985600-30986200	Weak transcription	Fetal Intestine Small	intestine
45	chr22:30985600-30986200	Weak transcription	Gastric	stomach
46	chr22:30985600-30986200	Weak transcription	Ovary	ovary
47	chr22:30985600-30986400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr22:30985600-30986400	Weak transcription	NH-A	brain
49	chr22:30985600-30986600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr22:30985600-30986600	Weak transcription	H1 Cell Line	embryonic stem cell

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