Variant report

Variant	rs42942
Chromosome Location	chr22:30977353-30977354
allele	A/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	chr22:30976973-30978190	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr22:30977094-30977375	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:52739932..52742506-chr22:30976575..30979127,2	MCF-7	breast:
2	chr22:30976279..30979843-chr22:30983636..30985903,3	MCF-7	breast:
3	chr22:30972817..30975654-chr22:30976999..30979142,2	MCF-7	breast:

Variant related genes	Relation type
PES1	TF binding region
ENSG00000100029	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12166405	0.87[AMR][1000 genomes]
rs12169435	0.87[AMR][1000 genomes]
rs42929	0.85[CEU][hapmap]
rs5994320	1.00[CHB][hapmap]
rs5997691	1.00[YRI][hapmap]
rs7285863	0.89[YRI][hapmap]
rs9606756	1.00[CHB][hapmap]
rs9609025	1.00[CHB][hapmap]
rs9609038	1.00[CHB][hapmap]
rs9619126	0.87[AMR][1000 genomes]
rs9621036	0.87[AMR][1000 genomes]
rs9621039	0.91[YRI][hapmap];0.87[AMR][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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30964400-30979600	Weak transcription	K562	blood
2	chr22:30970400-30983200	Weak transcription	Fetal Kidney	kidney
3	chr22:30971000-30980800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:30971000-30985600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr22:30971000-30986000	Strong transcription	GM12878-XiMat	blood
6	chr22:30971000-30987200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr22:30971200-30985200	Strong transcription	Placenta Amnion	Placenta Amnion
8	chr22:30971200-30985200	Strong transcription	Dnd41	blood
9	chr22:30971200-30985400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
10	chr22:30971200-30985600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr22:30971200-30985600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr22:30971200-30985600	Strong transcription	Adipose Nuclei	Adipose
13	chr22:30971200-30986000	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr22:30971400-30985000	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr22:30971400-30985400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr22:30971400-30985600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr22:30971400-30985600	Strong transcription	Fetal Intestine Small	intestine
18	chr22:30971400-30985800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr22:30971400-30986000	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr22:30971400-30986200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:30971600-30977800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:30971600-30978200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr22:30971600-30978200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
24	chr22:30971600-30978800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:30971600-30985400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr22:30971600-30985600	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr22:30971600-30985600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr22:30971600-30985600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr22:30971600-30985600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr22:30971600-30985600	Strong transcription	Fetal Thymus	thymus
31	chr22:30971600-30985600	Strong transcription	NH-A	brain
32	chr22:30971600-30985800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr22:30971600-30985800	Strong transcription	Fetal Intestine Large	intestine
34	chr22:30971600-30986000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr22:30971600-30986000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr22:30971600-30986000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr22:30971600-30986000	Strong transcription	Brain Germinal Matrix	brain
38	chr22:30971600-30986000	Strong transcription	Fetal Brain Female	brain
39	chr22:30971800-30977400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr22:30971800-30977800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr22:30971800-30978000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr22:30971800-30978200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr22:30971800-30978200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr22:30971800-30985200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr22:30971800-30985400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr22:30971800-30985400	Strong transcription	Rectal Smooth Muscle	rectum
47	chr22:30971800-30985600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr22:30971800-30985600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr22:30971800-30985600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr22:30971800-30985600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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