Variant report

Variant	rs9621437
Chromosome Location	chr22:32804938-32804939
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	chr22:32804660-32804970	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:32803479..32806391-chr22:32807402..32809274,3	MCF-7	breast:
2	chr22:32793471..32796323-chr22:32803063..32805279,2	MCF-7	breast:
3	chr22:32800445..32803051-chr22:32804188..32805697,2	K562	blood:
4	chr22:32802183..32805062-chr22:32805761..32809013,3	MCF-7	breast:

Variant related genes	Relation type
RTCB	TF binding region
ENSG00000100220	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12166739	0.87[YRI][hapmap];0.91[AMR][1000 genomes]
rs16990327	0.87[YRI][hapmap];0.89[AFR][1000 genomes]
rs16990372	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs5994567	0.81[AMR][1000 genomes]
rs5998480	0.81[AMR][1000 genomes]
rs9619258	0.85[YRI][hapmap];0.82[AFR][1000 genomes]
rs9621428	0.82[AFR][1000 genomes]
rs9621438	0.81[AMR][1000 genomes]
rs9621440	0.81[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	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1066118	chr22:32779078-32815334	Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr22:32780800-32806400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:32780800-32806400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:32781200-32805000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr22:32781200-32805400	Strong transcription	Fetal Muscle Leg	muscle
5	chr22:32781200-32806600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr22:32781400-32805000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr22:32781400-32805000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:32781400-32805000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:32781400-32805000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr22:32781400-32805000	Strong transcription	Fetal Intestine Large	intestine
11	chr22:32781400-32805000	Strong transcription	Fetal Lung	lung
12	chr22:32781400-32805000	Strong transcription	Fetal Muscle Trunk	muscle
13	chr22:32781400-32805000	Strong transcription	Left Ventricle	heart
14	chr22:32781400-32805000	Strong transcription	Osteobl	bone
15	chr22:32781400-32805200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr22:32781400-32805200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:32781400-32805600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr22:32781400-32806400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr22:32781400-32806600	Strong transcription	Placenta	Placenta
20	chr22:32781600-32805000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr22:32781600-32805000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:32781600-32805400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr22:32781600-32806000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:32781800-32805000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:32782200-32805200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr22:32782800-32807200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr22:32783000-32805000	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr22:32783200-32806600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr22:32783400-32805000	Strong transcription	Primary hematopoietic stem cells	blood
30	chr22:32788000-32805000	Strong transcription	Primary T cells from cord blood	blood
31	chr22:32788200-32805000	Strong transcription	Ovary	ovary
32	chr22:32789000-32805200	Strong transcription	Fetal Brain Female	brain
33	chr22:32792600-32805600	Weak transcription	Stomach Mucosa	stomach
34	chr22:32794200-32807400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr22:32798000-32806000	Weak transcription	Pancreas	Pancrea
36	chr22:32798000-32806800	Weak transcription	Psoas Muscle	Psoas
37	chr22:32798400-32806000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr22:32799600-32805000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr22:32799600-32805000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr22:32799600-32805000	Strong transcription	NH-A	brain
41	chr22:32800000-32805000	Strong transcription	Thymus	Thymus
42	chr22:32800000-32805000	Strong transcription	NHEK	skin
43	chr22:32800200-32805000	Strong transcription	Brain Substantia Nigra	brain
44	chr22:32800400-32805000	Strong transcription	Aorta	Aorta
45	chr22:32800400-32805000	Strong transcription	HSMM	muscle
46	chr22:32800400-32805000	Strong transcription	HUVEC	blood vessel
47	chr22:32800600-32805000	Strong transcription	Lung	lung
48	chr22:32801000-32805000	Strong transcription	NHDF-Ad	bronchial
49	chr22:32801000-32805200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
50	chr22:32801200-32805000	Strong transcription	Brain Germinal Matrix	brain

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