Variant report

Variant	rs60135459
Chromosome Location	chr22:33347270-33347271
allele	G/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	CTCF	chr22:33347260-33347410	SK-N-SH_RA	brain:	n/a	n/a
2	CTCF	chr22:33347200-33347350	GM12878	blood:	n/a	n/a
3	CTCF	chr22:33347153-33347477	K562	blood:	n/a	n/a
4	CTCF	chr22:33347220-33347370	AG04450	lung:	n/a	n/a
5	CHD2	chr22:33347190-33347390	H1-hESC	embryonic stem cell:	n/a	n/a
6	GATA3	chr22:33347182-33347794	SH-SY5Y	brain:	n/a	chr22:33347597-33347607 chr22:33347590-33347611 chr22:33347597-33347604 chr22:33347597-33347604 chr22:33347595-33347604 chr22:33347597-33347604
7	CTCF	chr22:33347218-33347381	NHEK	skin:	n/a	n/a
8	CTCF	chr22:33347180-33347330	SAEC	small airway:	n/a	n/a
9	CTCF	chr22:33347260-33347410	HBMEC	blood vessel:	n/a	n/a
10	CTCF	chr22:33347240-33347390	NHEK	skin:	n/a	n/a
11	YY1	chr22:33347091-33347464	H1-hESC	embryonic stem cell:	n/a	chr22:33347277-33347289
12	RAD21	chr22:33347211-33347376	HepG2	liver:	n/a	n/a
13	CTCF	chr22:33347214-33347427	K562	blood:	n/a	n/a
14	CTCF	chr22:33347260-33347410	NB4	blood:	n/a	n/a
15	CTCF	chr22:33347254-33347363	A549	lung:	n/a	n/a
16	CTCF	chr22:33347220-33347370	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr22:33347200-33347350	GM12874	blood:	n/a	n/a
18	CTCF	chr22:33347240-33347383	Medullo	brain:	n/a	n/a
19	YY1	chr22:33347020-33347576	H1-hESC	embryonic stem cell:	n/a	chr22:33347277-33347289
20	CTCF	chr22:33347260-33347410	GM12870	blood:	n/a	n/a
21	YY1	chr22:33347211-33347358	K562	blood:	n/a	chr22:33347277-33347289
22	CTCF	chr22:33347257-33347353	Fibrobl	skin:	n/a	n/a
23	CTCF	chr22:33347220-33347370	K562	blood:	n/a	n/a
24	CTCF	chr22:33347220-33347370	GM12864	blood:	n/a	n/a
25	CTCF	chr22:33347236-33347396	MCF-7	breast:	n/a	n/a
26	CTCF	chr22:33347220-33347370	HepG2	liver:	n/a	n/a
27	CTCF	chr22:33347240-33347390	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr22:33347220-33347370	HPF	lung:	n/a	n/a
29	CTCF	chr22:33347262-33347373	ProgFib	skin:	n/a	n/a
30	CTCF	chr22:33347240-33347390	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr22:33347260-33347410	K562	blood:	n/a	n/a
32	CTCF	chr22:33347220-33347370	AoAF	blood vessel:	n/a	n/a
33	GATA2	chr22:33347202-33348054	SH-SY5Y	brain:	n/a	chr22:33347597-33347607 chr22:33347590-33347611 chr22:33347597-33347604 chr22:33347597-33347604 chr22:33347595-33347604 chr22:33347597-33347604
34	RAD21	chr22:33347102-33347483	H1-hESC	embryonic stem cell:	n/a	n/a
35	RAD21	chr22:33347164-33347455	H1-hESC	embryonic stem cell:	n/a	n/a
36	RAD21	chr22:33347202-33347423	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr22:33347221-33347386	K562	blood:	n/a	n/a
38	CTCF	chr22:33347240-33347390	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr22:33347261-33347373	GM12891	blood:	n/a	n/a
40	CTCF	chr22:33347234-33347394	MCF-7	breast:	n/a	n/a
41	CTCF	chr22:33347220-33347370	HCT-116	colon:	n/a	n/a
42	CTCF	chr22:33347240-33347390	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr22:33347244-33347380	HepG2	liver:	n/a	n/a
44	CTCF	chr22:33347260-33347410	HEK293	kidney:	n/a	n/a
45	EP300	chr22:33347097-33348431	SK-N-SH	brain:	n/a	n/a
46	CTCF	chr22:33347200-33347350	HMEC	breast:	n/a	n/a
47	MXI1	chr22:33346885-33348275	SK-N-SH	brain:	n/a	n/a
48	CTCF	chr22:33347200-33347430	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr22:33347222-33347425	K562	blood:	n/a	n/a
50	CTCF	chr22:33347200-33347350	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32846948-32860159..22:33339333-33353583	K562	blood:

Variant related genes	Relation type
SYN3	TF binding region
ENSG00000184459	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12160593	1.00[AMR][1000 genomes]
rs1896288	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28780765	1.00[AMR][1000 genomes]
rs57006933	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57812631	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58135128	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58652298	1.00[AMR][1000 genomes]
rs58746144	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61145160	1.00[AMR][1000 genomes]
rs73162034	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405259	1.00[AMR][1000 genomes]
rs73405266	1.00[AMR][1000 genomes]
rs73405286	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405295	1.00[AMR][1000 genomes]
rs73405297	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408524	1.00[AMR][1000 genomes]
rs73408531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408536	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408544	1.00[AMR][1000 genomes]
rs8142025	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33314000-33380800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:33341600-33349600	Weak transcription	Fetal Brain Male	brain
3	chr22:33343200-33347400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr22:33343200-33372600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr22:33343600-33353000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr22:33344200-33360400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr22:33345000-33349200	Enhancers	Fetal Heart	heart
8	chr22:33345000-33350800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr22:33345200-33348200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:33345200-33348400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr22:33345400-33347400	Enhancers	Fetal Intestine Large	intestine
12	chr22:33345400-33348400	Enhancers	Fetal Muscle Leg	muscle
13	chr22:33345400-33348600	Enhancers	Placenta	Placenta
14	chr22:33345400-33348600	Enhancers	Left Ventricle	heart
15	chr22:33345600-33348400	Enhancers	Fetal Lung	lung
16	chr22:33345600-33348600	Enhancers	Right Atrium	heart
17	chr22:33345800-33347600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr22:33345800-33347800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr22:33345800-33348200	Enhancers	Right Ventricle	heart
20	chr22:33345800-33348200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr22:33345800-33349000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr22:33346000-33348400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr22:33346000-33348400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr22:33346000-33349000	Enhancers	Fetal Stomach	stomach
25	chr22:33346200-33347800	Enhancers	Adipose Nuclei	Adipose
26	chr22:33346200-33348200	Enhancers	Brain Substantia Nigra	brain
27	chr22:33346200-33348200	Enhancers	NHDF-Ad	bronchial
28	chr22:33346200-33348400	Enhancers	Primary hematopoietic stem cells	blood
29	chr22:33346400-33347600	Weak transcription	HSMMtube	muscle
30	chr22:33346400-33348200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr22:33346400-33348200	Enhancers	Placenta Amnion	Placenta Amnion
32	chr22:33346600-33347400	Weak transcription	Fetal Kidney	kidney
33	chr22:33346600-33347800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:33346600-33348000	Enhancers	Psoas Muscle	Psoas
35	chr22:33346600-33348200	Enhancers	Colon Smooth Muscle	Colon
36	chr22:33346600-33348200	Enhancers	Duodenum Mucosa	Duodenum
37	chr22:33346800-33347800	Enhancers	Brain Anterior Caudate	brain
38	chr22:33346800-33348200	Enhancers	Brain Hippocampus Middle	brain
39	chr22:33346800-33348200	Enhancers	Rectal Smooth Muscle	rectum
40	chr22:33346800-33348200	Enhancers	Stomach Smooth Muscle	stomach
41	chr22:33347000-33347400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr22:33347000-33347400	Weak transcription	Fetal Intestine Small	intestine
43	chr22:33347000-33347400	Enhancers	Pancreas	Pancrea
44	chr22:33347000-33347800	Genic enhancers	HUES48 Cell Line	embryonic stem cell
45	chr22:33347000-33348200	Enhancers	Spleen	Spleen
46	chr22:33347200-33347400	Enhancers	Gastric	stomach
47	chr22:33347200-33347600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr22:33347200-33347600	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr22:33347200-33347800	Enhancers	Ovary	ovary
50	chr22:33347200-33347800	Enhancers	Small Intestine	intestine

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