Variant report

Variant	rs547589751
Chromosome Location	chr22:29680756-29680757
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29679344..29683807-chr22:29683865..29688550,5	K562	blood:
2	chr22:29663979..29668248-chr22:29679949..29682919,3	K562	blood:
3	chr22:29678219..29683638-chr22:29683865..29689290,8	K562	blood:

Variant related genes	Relation type
ENSG00000182944	Chromatin interaction
ENSG00000100263	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv829155	chr22:29664396-29724001	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	esv19640	chr22:29680283-29681805	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1805691	chr22:29680351-29681758	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1808307	chr22:29680351-29681758	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1809466	chr22:29680351-29681758	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29667200-29695000	Strong transcription	Placenta	Placenta
2	chr22:29667600-29697800	Strong transcription	Fetal Muscle Trunk	muscle
3	chr22:29667800-29697000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:29667800-29697200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:29667800-29697800	Strong transcription	Fetal Thymus	thymus
6	chr22:29668000-29697000	Strong transcription	NHEK	skin
7	chr22:29668000-29697200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr22:29668000-29697200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr22:29668000-29697600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr22:29668000-29697600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr22:29668000-29698000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:29668000-29698200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:29668200-29697000	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr22:29668200-29697400	Strong transcription	HMEC	breast
15	chr22:29668200-29697600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr22:29668200-29697800	Strong transcription	Fetal Muscle Leg	muscle
17	chr22:29668200-29698000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr22:29668200-29698400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:29668200-29698400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr22:29668400-29697200	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr22:29668400-29698000	Strong transcription	Stomach Smooth Muscle	stomach
22	chr22:29668600-29681200	Strong transcription	HSMMtube	muscle
23	chr22:29668600-29689400	Strong transcription	Primary B cells from cord blood	blood
24	chr22:29668600-29697600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr22:29668600-29698000	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr22:29668800-29697000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr22:29668800-29697000	Strong transcription	Fetal Lung	lung
28	chr22:29668800-29697200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr22:29668800-29697200	Strong transcription	Osteobl	bone
30	chr22:29668800-29697800	Strong transcription	HSMM	muscle
31	chr22:29669000-29696000	Strong transcription	HUVEC	blood vessel
32	chr22:29669000-29697200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr22:29669000-29697200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr22:29669000-29697200	Strong transcription	NH-A	brain
35	chr22:29669000-29698400	Strong transcription	Thymus	Thymus
36	chr22:29669200-29688800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr22:29669200-29697200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr22:29669200-29698000	Strong transcription	Fetal Brain Female	brain
39	chr22:29669400-29696600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr22:29669400-29697000	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr22:29669400-29697400	Strong transcription	NHLF	lung
42	chr22:29669400-29698400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr22:29669400-29698400	Strong transcription	Brain Germinal Matrix	brain
44	chr22:29669600-29681200	Strong transcription	Brain Cingulate Gyrus	brain
45	chr22:29669600-29697000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr22:29669600-29697200	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr22:29669800-29680800	Strong transcription	Right Ventricle	heart
48	chr22:29670000-29682800	Strong transcription	Brain Anterior Caudate	brain
49	chr22:29670000-29687000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:29670400-29695600	Strong transcription	ES-I3 Cell Line	embryonic stem cell

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