Variant report

Variant	rs9606994
Chromosome Location	chr22:33193050-33193051
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	CTCF	chr22:33193036-33193278	HepG2	liver:	n/a	chr22:33193159-33193172
2	RAD21	chr22:33192880-33193379	MCF-7	breast:	n/a	n/a
3	RAD21	chr22:33192729-33193475	HepG2	liver:	n/a	n/a
4	CTCF	chr22:33192920-33193331	K562	blood:	n/a	chr22:33193159-33193172
5	RAD21	chr22:33192853-33193452	A549	lung:	n/a	n/a
6	CTCF	chr22:33193013-33193289	Pancreas_OC	pancreas:	n/a	chr22:33193159-33193172
7	CTCF	chr22:33192959-33193302	GM12891	blood:	n/a	chr22:33193159-33193172
8	SMC3	chr22:33192955-33193394	K562	blood:	n/a	n/a
9	RFX5	chr22:33193016-33193227	HepG2	liver:	n/a	n/a
10	CTCF	chr22:33193037-33193272	LNCaP	prostate:	n/a	chr22:33193159-33193172
11	ZNF143	chr22:33192971-33193311	H1-hESC	embryonic stem cell:	n/a	chr22:33193213-33193232
12	SMC3	chr22:33192968-33193347	GM12878	blood:	n/a	n/a
13	CTCF	chr22:33192827-33193339	HCT-116	colon:	n/a	chr22:33193159-33193172
14	MYC	chr22:33192919-33193173	MCF-7	breast:	n/a	n/a
15	RAD21	chr22:33192748-33193418	MCF-7	breast:	n/a	n/a
16	CTCF	chr22:33193019-33193291	ProgFib	skin:	n/a	chr22:33193159-33193172
17	RAD21	chr22:33192986-33193239	K562	blood:	n/a	n/a
18	CTCF	chr22:33193017-33193299	Lung_OC	lung:	n/a	chr22:33193159-33193172
19	CTCF	chr22:33192991-33193291	GM12878	blood:	n/a	chr22:33193159-33193172
20	CTCF	chr22:33192985-33193297	Fibrobl	skin:	n/a	chr22:33193159-33193172
21	RAD21	chr22:33192819-33193281	SK-N-SH_RA	brain:	n/a	n/a
22	POLR2A	chr22:33192936-33193208	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZC3H11A	chr22:33193014-33193215	K562	blood:	n/a	n/a
24	CHD1	chr22:33192719-33193846	IMR90	lung:	n/a	n/a
25	RAD21	chr22:33192844-33193367	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr22:33193040-33193190	K562	blood:	n/a	chr22:33193159-33193172
27	CTCF	chr22:33192900-33193293	H1-hESC	embryonic stem cell:	n/a	chr22:33193159-33193172
28	CTCF	chr22:33192937-33193423	K562	blood:	n/a	chr22:33193159-33193172
29	CTCF	chr22:33192999-33193293	K562	blood:	n/a	chr22:33193159-33193172
30	CTCF	chr22:33193019-33193279	A549	lung:	n/a	chr22:33193159-33193172
31	ZNF143	chr22:33192991-33193335	GM12878	blood:	n/a	chr22:33193213-33193232
32	CTCF	chr22:33193040-33193190	HAc	cerebellar:	n/a	chr22:33193159-33193172
33	RAD21	chr22:33192907-33193349	A549	lung:	n/a	n/a
34	CTCF	chr22:33193037-33193334	GM10266	blood:	n/a	chr22:33193159-33193172
35	RCOR1	chr22:33192896-33193321	K562	blood:	n/a	n/a
36	CTCF	chr22:33192676-33193733	SK-N-SH	brain:	n/a	chr22:33193159-33193172
37	ARID3A	chr22:33192999-33193292	HepG2	liver:	n/a	n/a
38	CTCF	chr22:33192714-33193427	HCT-116	colon:	n/a	chr22:33193159-33193172
39	CTCF	chr22:33193040-33193190	NHDF-neo	bronchial:	n/a	chr22:33193159-33193172
40	RAD21	chr22:33192993-33193312	A549	lung:	n/a	n/a
41	RAD21	chr22:33192899-33193371	HepG2	liver:	n/a	n/a
42	MYC	chr22:33192951-33193336	K562	blood:	n/a	n/a
43	BRCA1	chr22:33193038-33193236	HepG2	liver:	n/a	n/a
44	RAD21	chr22:33192927-33193352	HepG2	liver:	n/a	n/a
45	CTCF	chr22:33192931-33193298	MCF-7	breast:	n/a	chr22:33193159-33193172
46	CTCF	chr22:33193031-33193225	SK-N-SH_RA	brain:	n/a	chr22:33193159-33193172
47	SMC3	chr22:33192736-33193369	HepG2	liver:	n/a	n/a
48	MAZ	chr22:33192765-33193285	HepG2	liver:	n/a	n/a
49	CTCF	chr22:33192978-33193303	HepG2	liver:	n/a	chr22:33193159-33193172
50	CTCF	chr22:33193010-33193301	Spleen_OC	spleen:	n/a	chr22:33193159-33193172

No.	Distal block	Cell Line	Cell type
1	chr22:33055970..33056871-chr22:33192363..33193467,3	K562	blood:
2	22:32284948-32287956..22:33190123-33206921	K562	blood:
3	chr22:33055973..33057208-chr22:33192214..33193923,10	MCF-7	breast:
4	chr22:32924678..32925597-chr22:33192568..33193610,6	MCF-7	breast:
5	chr22:32924645..32925611-chr22:33192604..33193202,3	K562	blood:
6	chr22:32925909..32926540-chr22:33192942..33193458,2	K562	blood:
7	22:32846948-32860159..22:33190123-33206921	K562	blood:
8	chr22:33192924..33193438-chr22:33204502..33205172,2	MCF-7	breast:
9	chr22:33056115..33056811-chr22:33192659..33193956,7	MCF-7	breast:

Variant related genes	Relation type
TIMP3	TF binding region
ENSG00000227813	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000184459	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs130272	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs130561	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13057881	0.91[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs135025	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2016293	0.84[AFR][1000 genomes]
rs242082	0.83[CHB][hapmap];0.83[YRI][hapmap]
rs3827342	0.82[CHB][hapmap]
rs4820094	0.82[CHB][hapmap]
rs5998638	0.85[AFR][1000 genomes]
rs713996	0.91[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs737089	0.87[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs738992	0.88[YRI][hapmap];0.84[AFR][1000 genomes]
rs9609632	0.82[CHB][hapmap];0.89[AFR][1000 genomes]
rs9609633	0.91[AFR][1000 genomes]
rs9619311	0.81[YRI][hapmap]

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33176800-33196600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr22:33182600-33195400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:33185200-33197200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:33189800-33193400	Enhancers	Fetal Muscle Leg	muscle
5	chr22:33189800-33193400	Enhancers	Fetal Stomach	stomach
6	chr22:33190000-33193200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr22:33190200-33193200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr22:33190400-33193400	Enhancers	Brain Cingulate Gyrus	brain
9	chr22:33190600-33193400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:33190600-33193400	Enhancers	Fetal Thymus	thymus
11	chr22:33190600-33194000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr22:33190800-33193200	Enhancers	Placenta	Placenta
13	chr22:33190800-33193200	Enhancers	Thymus	Thymus
14	chr22:33191000-33193800	Enhancers	HepG2	liver
15	chr22:33191200-33193400	Enhancers	Brain Anterior Caudate	brain
16	chr22:33191200-33193800	Enhancers	Osteobl	bone
17	chr22:33191400-33197000	Weak transcription	Fetal Intestine Small	intestine
18	chr22:33191800-33193600	Enhancers	Dnd41	blood
19	chr22:33192000-33193200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr22:33192400-33193200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:33192400-33193200	Enhancers	Lung	lung
22	chr22:33192400-33193200	Enhancers	Right Ventricle	heart
23	chr22:33192400-33193400	Enhancers	Adipose Nuclei	Adipose
24	chr22:33192400-33193400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr22:33192400-33193400	Enhancers	NHDF-Ad	bronchial
26	chr22:33192400-33193600	Enhancers	HSMMtube	muscle
27	chr22:33192400-33193800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr22:33192400-33193800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr22:33192400-33194400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr22:33192600-33193200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr22:33192600-33193200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr22:33192600-33193200	Enhancers	Fetal Lung	lung
33	chr22:33192600-33193200	Enhancers	Ovary	ovary
34	chr22:33192600-33193200	Enhancers	NHLF	lung
35	chr22:33192600-33193400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr22:33192600-33193400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr22:33192600-33193400	Enhancers	Right Atrium	heart
38	chr22:33192600-33193600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr22:33192600-33193600	Enhancers	HSMM	muscle
40	chr22:33192800-33193200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr22:33192800-33193200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr22:33192800-33193200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:33192800-33193200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr22:33192800-33193200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr22:33192800-33193200	Enhancers	Liver	Liver
46	chr22:33192800-33193200	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr22:33192800-33193200	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr22:33192800-33193200	Enhancers	Colonic Mucosa	Colon
49	chr22:33192800-33193200	Enhancers	Esophagus	oesophagus
50	chr22:33192800-33193200	Enhancers	Pancreas	Pancrea

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