Variant report

Variant	rs2234921
Chromosome Location	chr22:33197074-33197075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr22:33196999-33202737	IMR90	lung:	n/a	n/a
2	CTCF	chr22:33196960-33197110	HBMEC	blood vessel:	n/a	n/a
3	CTCF	chr22:33197040-33197190	BE2_C	brain:	n/a	n/a
4	CTCF	chr22:33197040-33197190	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr22:33197040-33197190	NHEK	skin:	n/a	n/a
6	CTCF	chr22:33196980-33197270	HCM	heart:	n/a	n/a
7	CTCF	chr22:33197060-33197210	HBMEC	blood vessel:	n/a	n/a
8	MXI1	chr22:33196570-33201496	IMR90	lung:	n/a	chr22:33200700-33200715 chr22:33200702-33200717
9	CTCF	chr22:33196980-33197130	NHEK	skin:	n/a	n/a
10	CEBPB	chr22:33196929-33197128	K562	blood:	n/a	n/a
11	CTCF	chr22:33197020-33197170	SAEC	small airway:	n/a	n/a
12	CTCF	chr22:33197000-33197150	HMEC	breast:	n/a	n/a
13	CTCF	chr22:33197060-33197210	HMEC	breast:	n/a	n/a
14	CTCF	chr22:33197000-33197150	AG10803	skin:	n/a	n/a
15	CTCF	chr22:33197020-33197170	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr22:33197040-33197190	AG04449	skin:	n/a	n/a
17	CTCF	chr22:33197020-33197170	AG09319	gingival:	n/a	n/a
18	MAZ	chr22:33197036-33201932	IMR90	lung:	n/a	chr22:33197379-33197388 chr22:33200706-33200715 chr22:33200830-33200840 chr22:33197611-33197621
19	RAD21	chr22:33197017-33197237	SK-N-SH_RA	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:33197034-33197084	HRCEpiC	kidney:	n/a
2	chr22:33197034-33197084	HPAEpiC	pulmonary alveolar:	n/a
3	chr22:33197034-33197084	AG10803	skin:	n/a
4	chr22:33197034-33197084	HCM	heart:	n/a
5	chr22:33197034-33197084	PrEC	prostate:	n/a
6	chr22:33197034-33197084	AoSMC	blood vessel:	n/a
7	chr22:33197034-33197084	HCF	heart:	n/a
8	chr22:33197034-33197084	CMK	blood:	n/a
9	chr22:33197034-33197084	HNPCEpiC	eye:	n/a
10	chr22:33197034-33197084	BJ	skin:	n/a
11	chr22:33197034-33197084	BE2_C	brain:	n/a
12	chr22:33197034-33197084	NT2-D1	testis:	n/a
13	chr22:33197034-33197084	A549	lung:	n/a
14	chr22:33197034-33197084	HCPEpiC	choroid plexus:	n/a
15	chr22:33197034-33197084	PFSK-1	brain:	n/a
16	chr22:33197034-33197084	SKMC	muscle:	n/a
17	chr22:33197034-33197084	HAEpiC	amniotic membrane:	n/a
18	chr22:33197034-33197084	GM12892	blood:	n/a
19	chr22:33197034-33197084	RPTEC	kidney:	n/a
20	chr22:33197034-33197084	AG04450	lung:	fetal
21	chr22:33197034-33197084	AG09309	skin:	n/a
22	chr22:33197034-33197084	HL-60	blood:	n/a
23	chr22:33197034-33197084	MCF10A-Er-Src	breast:	n/a
24	chr22:33197034-33197084	PANC-1	pancreas:	n/a
25	chr22:33197034-33197084	K562	blood:	n/a
26	chr22:33197034-33197084	IMR90	lung:	fetal
27	chr22:33197034-33197084	GM12878	blood:	n/a
28	chr22:33197034-33197084	GM19239	blood:	n/a
29	chr22:33197034-33197084	HUVEC	blood vessel:	n/a
30	chr22:33197034-33197084	ovcar-3	ovarian:	n/a
31	chr22:33197034-33197084	NHBE	bronchial:	n/a
32	chr22:33197034-33197084	H1-hESC	embryonic stem cell:	embryo
33	chr22:33197034-33197084	HIPEpiC	eye:	n/a
34	chr22:33197034-33197084	HEEpiC	esophagus:	n/a
35	chr22:33197034-33197084	HEK293	kidney:	embryo
36	chr22:33197034-33197084	HRPEpiC	eye:	n/a
37	chr22:33197034-33197084	SK-N-SH	brain:	n/a
38	chr22:33197034-33197084	T-47D	breast:	n/a
39	chr22:33197034-33197084	SK-N-SH_RA	brain:	n/a
40	chr22:33197034-33197084	Hela-S3	cervix:	n/a
41	chr22:33197034-33197084	AG04449	skin:	fetal
42	chr22:33197034-33197084	SAEC	small airway:	n/a
43	chr22:33197034-33197084	Jurkat	blood:	n/a
44	chr22:33197034-33197084	MCF-7	breast:	n/a
45	chr22:33197034-33197084	U87	brain:	n/a
46	chr22:33197034-33197084	HMEC	breast:	n/a
47	chr22:33197034-33197084	HRE	kidney:	n/a
48	chr22:33197034-33197084	AG09319	gingival:	n/a
49	chr22:33197034-33197084	NHDF-neo	bronchial:	n/a
50	chr22:33197034-33197084	GM12891	blood:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:33196677..33197366-chr22:33396432..33397359,2	MCF-7	breast:
2	chr22:32873449..32876014-chr22:33195387..33198121,2	MCF-7	breast:
3	22:32284948-32287956..22:33190123-33206921	K562	blood:
4	22:32846948-32860159..22:33190123-33206921	K562	blood:
5	chr22:33196424..33197160-chr22:33218794..33219602,2	MCF-7	breast:
6	chr22:33195652..33199571-chr22:33200330..33212129,15	MCF-7	breast:
7	chr22:32977838..32980005-chr22:33196741..33198694,2	MCF-7	breast:
8	chr22:32922025..32930472-chr22:33196157..33204507,15	MCF-7	breast:

No data

Variant related genes	Relation type
TIMP3	TF binding region
TIMP3	CpG island
ENSG00000184459	Chromatin interaction
ENSG00000227813	Chromatin interaction
ENSG00000197047	Chromatin interaction
ENSG00000236054	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs5754290	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8137129	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9619311	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33185200-33197200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:33193000-33197200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr22:33193200-33197200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr22:33193200-33197200	Weak transcription	Brain Substantia Nigra	brain
5	chr22:33193200-33197200	Weak transcription	Esophagus	oesophagus
6	chr22:33193200-33197200	Weak transcription	Pancreas	Pancrea
7	chr22:33193400-33197200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:33193400-33197200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr22:33195000-33197600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr22:33195400-33197200	Enhancers	Fetal Muscle Leg	muscle
11	chr22:33195400-33197200	Enhancers	HSMMtube	muscle
12	chr22:33195600-33197200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr22:33195600-33197200	Enhancers	Lung	lung
14	chr22:33195600-33197200	Enhancers	Spleen	Spleen
15	chr22:33195800-33197400	Enhancers	Fetal Heart	heart
16	chr22:33196000-33197200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:33196000-33197400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr22:33196200-33197200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:33196200-33197200	Enhancers	NHLF	lung
20	chr22:33196200-33197400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr22:33196200-33197400	Enhancers	Fetal Kidney	kidney
22	chr22:33196600-33197200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
23	chr22:33196600-33197200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr22:33196600-33197200	Bivalent Enhancer	Fetal Thymus	thymus
25	chr22:33196600-33197200	Enhancers	Right Ventricle	heart
26	chr22:33196600-33197400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr22:33196600-33197400	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr22:33196600-33197400	Flanking Active TSS	NHDF-Ad	bronchial
29	chr22:33196600-33197600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr22:33196800-33197200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr22:33196800-33197200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr22:33196800-33197200	Enhancers	Primary hematopoietic stem cells	blood
33	chr22:33196800-33197200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr22:33196800-33197200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr22:33196800-33197200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr22:33196800-33197200	Enhancers	Brain Angular Gyrus	brain
37	chr22:33196800-33197200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
38	chr22:33196800-33197200	Enhancers	Ovary	ovary
39	chr22:33196800-33197200	Bivalent Enhancer	Psoas Muscle	Psoas
40	chr22:33196800-33197200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr22:33196800-33197200	Bivalent Enhancer	Stomach Mucosa	stomach
42	chr22:33196800-33197200	Bivalent Enhancer	Thymus	Thymus
43	chr22:33196800-33197200	Enhancers	Hela-S3	cervix
44	chr22:33196800-33197200	Enhancers	HepG2	liver
45	chr22:33196800-33197200	Enhancers	HMEC	breast
46	chr22:33196800-33197400	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr22:33196800-33197400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
48	chr22:33196800-33197400	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr22:33196800-33197400	Flanking Active TSS	HSMM	muscle
50	chr22:33196800-33197400	Flanking Active TSS	Osteobl	bone

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