Variant report

Variant	rs9606887
Chromosome Location	chr22:32347771-32347772
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:32347722-32348350	HepG2	liver:	n/a	n/a
2	POLR2A	chr22:32347699-32348029	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr22:32347562-32348165	K562	blood:	n/a	n/a
4	POLR2A	chr22:32347676-32348017	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr22:32347288-32348128	HepG2	liver:	n/a	n/a
6	POLR2A	chr22:32345555-32348344	K562	blood:	n/a	n/a
7	POLR2A	chr22:32347272-32348003	GM12891	blood:	n/a	n/a
8	POLR2A	chr22:32347708-32348299	HL-60	blood:	n/a	n/a
9	POLR2A	chr22:32347668-32348284	MCF-7	breast:	n/a	n/a
10	POLR2A	chr22:32347672-32348343	GM12892	blood:	n/a	n/a
11	FOS	chr22:32347583-32347782	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr22:32347020-32348213	HL-60	blood:	n/a	n/a
13	POLR2A	chr22:32346205-32348610	K562	blood:	n/a	n/a
14	POLR2A	chr22:32347677-32348115	K562	blood:	n/a	n/a
15	POLR2A	chr22:32347602-32348164	GM12892	blood:	n/a	n/a
16	POLR2A	chr22:32339799-32349498	K562	blood:	n/a	n/a
17	POLR2A	chr22:32347067-32348329	GM12892	blood:	n/a	n/a
18	FOS	chr22:32347657-32347826	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr22:32347209-32348282	HepG2	liver:	n/a	n/a
20	POLR2A	chr22:32347601-32348232	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr22:32346291-32348270	A549	lung:	n/a	n/a
22	POLR2A	chr22:32347577-32348168	GM12892	blood:	n/a	n/a
23	POLR2A	chr22:32347555-32348356	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr22:32347184-32348169	Hela-S3	cervix:	n/a	n/a
25	JUND	chr22:32347550-32349054	SK-N-SH	brain:	n/a	chr22:32348608-32348618

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:32345809..32348159-chr22:32420362..32422364,2	MCF-7	breast:
2	22:32053085-32061138..22:32347255-32351014	GM12878	blood:
3	chr22:32061496..32064184-chr22:32345416..32347899,2	K562	blood:
4	chr22:32269252..32272043-chr22:32344783..32347897,3	K562	blood:
5	chr22:32264603..32274220-chr22:32339477..32348693,21	K562	blood:
6	22:32170492-32188129..22:32347255-32351014	K562	blood:
7	22:32012966-32043914..22:32347255-32351014	K562	blood:
8	22:31864703-31891033..22:32347255-32351014	K562	blood:
9	chr22:32346636..32349380-chr22:32349950..32352854,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000238910	TF binding region
ENSG00000199248	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000100150	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2853884	0.80[ASN][1000 genomes]
rs2858750	0.80[ASN][1000 genomes]
rs2858752	0.80[ASN][1000 genomes]
rs71806276	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7290696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7291050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs738181	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs933226	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9606888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9621373	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428046	chr22:32316302-32356963	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr22:32342000-32354400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:32342200-32347800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr22:32342400-32357600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:32342800-32347800	Weak transcription	Psoas Muscle	Psoas
5	chr22:32343400-32348000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr22:32343400-32348000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr22:32343400-32350400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr22:32343400-32355000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:32343600-32347800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:32343600-32348800	Genic enhancers	K562	blood
11	chr22:32343600-32349200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr22:32343600-32349800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
13	chr22:32343600-32354600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:32343800-32347800	Weak transcription	Liver	Liver
15	chr22:32343800-32351000	Strong transcription	Primary B cells from cord blood	blood
16	chr22:32344000-32348200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr22:32344200-32347800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr22:32344200-32348000	Strong transcription	Fetal Intestine Large	intestine
19	chr22:32344200-32349000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr22:32344400-32348200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr22:32344600-32352200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:32344800-32352000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr22:32345600-32348200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr22:32345600-32349200	Genic enhancers	NHDF-Ad	bronchial
25	chr22:32345600-32350000	Enhancers	Fetal Brain Male	brain
26	chr22:32345600-32350800	Genic enhancers	HMEC	breast
27	chr22:32345600-32351200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr22:32345600-32351200	Genic enhancers	Fetal Brain Female	brain
29	chr22:32345800-32350000	Enhancers	Hela-S3	cervix
30	chr22:32345800-32351000	Genic enhancers	NHEK	skin
31	chr22:32345800-32351400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr22:32345800-32352600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr22:32346200-32347800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr22:32346200-32347800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr22:32346200-32348000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr22:32346200-32348000	Genic enhancers	Fetal Muscle Leg	muscle
37	chr22:32346200-32348000	Genic enhancers	Rectal Mucosa Donor 29	rectum
38	chr22:32346200-32348000	Genic enhancers	A549	lung
39	chr22:32346200-32348000	Genic enhancers	NHLF	lung
40	chr22:32346200-32348200	Genic enhancers	Left Ventricle	heart
41	chr22:32346200-32349400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr22:32346200-32349400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr22:32346200-32350800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr22:32346200-32350800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr22:32346400-32348000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr22:32346400-32348000	Strong transcription	Spleen	Spleen
47	chr22:32346400-32348200	Genic enhancers	Duodenum Mucosa	Duodenum
48	chr22:32346400-32349000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr22:32346400-32349000	Strong transcription	Brain Germinal Matrix	brain
50	chr22:32346400-32349000	Enhancers	Right Atrium	heart

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