Variant report

Variant	rs13055495
Chromosome Location	chr22:32341092-32341093
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	POLR2A	chr22:32339741-32341730	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr22:32339474-32343821	SK-N-SH	brain:	n/a	n/a
3	HMGN3	chr22:32339953-32341446	K562	blood:	n/a	n/a
4	MXI1	chr22:32339679-32342128	GM12878	blood:	n/a	n/a
5	POLR2A	chr22:32339465-32342192	Hela-S3	cervix:	n/a	n/a
6	E2F6	chr22:32339768-32341144	K562	blood:	n/a	chr22:32340612-32340621 chr22:32340295-32340304 chr22:32340352-32340361 chr22:32340620-32340630 chr22:32340416-32340425 chr22:32340445-32340454 chr22:32340205-32340214 chr22:32340107-32340124 chr22:32340350-32340359 chr22:32340110-32340121
7	POLR2A	chr22:32339598-32341842	HL-60	blood:	n/a	n/a
8	POLR2A	chr22:32339500-32342859	K562	blood:	n/a	n/a
9	POLR2A	chr22:32339704-32341105	MCF-7	breast:	n/a	n/a
10	POLR2A	chr22:32339606-32345108	IMR90	lung:	n/a	n/a
11	HEY1	chr22:32340385-32341174	HepG2	liver:	n/a	chr22:32340618-32340633 chr22:32340635-32340650
12	CHD1	chr22:32340481-32341152	GM12878	blood:	n/a	chr22:32340548-32340558 chr22:32340690-32340700
13	ELF1	chr22:32339847-32341147	K562	blood:	n/a	chr22:32340034-32340046 chr22:32340619-32340628 chr22:32340624-32340636 chr22:32340978-32340991
14	MAZ	chr22:32339708-32341592	K562	blood:	n/a	chr22:32340069-32340076 chr22:32340395-32340405
15	MAX	chr22:32339730-32341134	MCF-7	breast:	n/a	chr22:32340069-32340076 chr22:32340395-32340405
16	ZBTB7A	chr22:32340727-32341230	K562	blood:	n/a	n/a
17	MAX	chr22:32339607-32341782	Hela-S3	cervix:	n/a	chr22:32340069-32340076 chr22:32340395-32340405
18	CTCF	chr22:32341040-32341190	GM12875	blood:	n/a	n/a
19	POLR2A	chr22:32340889-32341305	U87	brain:	n/a	n/a
20	POLR2A	chr22:32339690-32341711	GM15510	blood:	n/a	n/a
21	CTCF	chr22:32341020-32341170	SAEC	small airway:	n/a	n/a
22	ZNF143	chr22:32340966-32341298	GM12878	blood:	n/a	n/a
23	POLR2A	chr22:32339683-32342704	H1-neurons	neurons:	n/a	n/a
24	UBTF	chr22:32340468-32341271	K562	blood:	n/a	n/a
25	SMC3	chr22:32341030-32341296	Hela-S3	cervix:	n/a	n/a
26	PAX5	chr22:32340092-32341136	GM12892	blood:	n/a	chr22:32340612-32340621 chr22:32340477-32340486
27	POLR2A	chr22:32339453-32341900	K562	blood:	n/a	n/a
28	POLR2A	chr22:32339633-32341491	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr22:32339641-32341962	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr22:32339746-32341140	ECC-1	luminal epithelium:	n/a	n/a
31	E2F1	chr22:32339891-32341120	Hela-S3	cervix:	n/a	chr22:32340612-32340621 chr22:32340295-32340304 chr22:32340352-32340361 chr22:32340620-32340630 chr22:32340416-32340425 chr22:32340445-32340454 chr22:32340205-32340214 chr22:32340107-32340124 chr22:32340350-32340359 chr22:32340952-32340963 chr22:32340110-32340121
32	CTCF	chr22:32341080-32341230	WERI-Rb-1	eye:	n/a	n/a
33	ELF1	chr22:32340803-32341127	HepG2	liver:	n/a	chr22:32340978-32340991
34	TCF12	chr22:32339636-32341181	ECC-1	luminal epithelium:	n/a	n/a
35	ELF1	chr22:32339366-32341187	GM12878	blood:	n/a	chr22:32340034-32340046 chr22:32340619-32340628 chr22:32340624-32340636 chr22:32340978-32340991
36	NRF1	chr22:32339595-32341222	SK-N-SH	brain:	n/a	chr22:32340441-32340455 chr22:32340608-32340622 chr22:32340444-32340453 chr22:32340296-32340305 chr22:32340294-32340305 chr22:32340611-32340622 chr22:32340524-32340533 chr22:32340294-32340305 chr22:32340294-32340308 chr22:32340613-32340622 chr22:32340291-32340305 chr22:32340205-32340214 chr22:32340611-32340625
37	MYC	chr22:32339662-32341110	NB4	blood:	n/a	chr22:32340069-32340076 chr22:32340395-32340405
38	POLR2A	chr22:32339552-32341882	HepG2	liver:	n/a	n/a
39	POLR2A	chr22:32339427-32342832	K562	blood:	n/a	n/a
40	CTCF	chr22:32341000-32341150	GM12865	blood:	n/a	n/a
41	CHD2	chr22:32340953-32341153	K562	blood:	n/a	n/a
42	POLR2A	chr22:32339399-32341520	K562	blood:	n/a	n/a
43	TAF1	chr22:32339819-32341290	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr22:32341091-32341101	GM13976	blood:	n/a	n/a
45	POLR2A	chr22:32339723-32341203	MCF-7	breast:	n/a	n/a
46	CTCF	chr22:32341020-32341170	HBMEC	blood vessel:	n/a	n/a
47	POLR2A	chr22:32339675-32341111	A549	lung:	n/a	n/a
48	CTCF	chr22:32341020-32341170	GM12874	blood:	n/a	n/a
49	CTCF	chr22:32341080-32341230	AG09319	gingival:	n/a	n/a
50	CTCF	chr22:32341080-32341230	AG04450	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:32148473..32152307-chr22:32339145..32342092,6	K562	blood:
2	chr22:31740048..31742045-chr22:32339591..32341543,2	MCF-7	breast:
3	chr22:32291933..32294200-chr22:32339329..32341554,2	MCF-7	breast:
4	chr22:32287695..32295635-chr22:32339159..32346051,14	K562	blood:
5	chr22:32058182..32059714-chr22:32339404..32341859,2	MCF-7	breast:
6	chr22:32143401..32146678-chr22:32340513..32343465,3	K562	blood:
7	chr22:32290403..32295434-chr22:32338835..32345403,11	K562	blood:
8	22:31829733-31836635..22:32338420-32342898	K562	blood:
9	chr22:32340518..32342759-chr22:32869952..32872764,2	K562	blood:
10	chr22:32213023..32215994-chr22:32340622..32343238,2	MCF-7	breast:
11	chr22:32265561..32271092-chr22:32337255..32342585,8	MCF-7	breast:
12	chr22:32329388..32335571-chr22:32336708..32343906,17	K562	blood:
13	chr22:32263494..32270321-chr22:32339054..32343535,9	K562	blood:
14	chr22:32055976..32060358-chr22:32339389..32343294,9	K562	blood:
15	chr22:32340998..32345394-chr22:32364660..32368897,5	MCF-7	breast:
16	chr22:32287148..32289580-chr22:32339395..32341919,4	K562	blood:
17	chr22:32264603..32274220-chr22:32339477..32348693,21	K562	blood:
18	chr22:32333714..32338666-chr22:32338808..32341895,4	MCF-7	breast:
19	chr22:32148601..32151339-chr22:32339160..32341973,3	MCF-7	breast:
20	chr22:31884354..31887535-chr22:32340375..32343416,3	MCF-7	breast:
21	22:31936958-31958600..22:32338420-32342898	K562	blood:
22	chr22:32057033..32060064-chr22:32338919..32341534,3	MCF-7	breast:
23	chr22:32147800..32152307-chr22:32338859..32342135,7	K562	blood:
24	chr22:32267945..32270075-chr22:32339613..32341959,2	MCF-7	breast:
25	chr22:32054689..32061174-chr22:32339137..32344183,9	K562	blood:
26	chr22:32142746..32147740-chr22:32340513..32344780,7	K562	blood:
27	chr22:32149264..32152111-chr22:32339608..32342388,3	MCF-7	breast:
28	chr22:32023093..32026034-chr22:32340368..32341945,2	K562	blood:
29	22:32284948-32287956..22:32338420-32342898	Hela-S3	cervix:
30	22:32150875-32154575..22:32338420-32342898	K562	blood:

Variant related genes	Relation type
YWHAH	TF binding region
ENSG00000183530	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000227813	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000236132	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000242251	Chromatin interaction
ENSG00000100225	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13057194	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1807550	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1986211	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2246704	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2413061	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2858753	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3747158	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4820065	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4821004	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5994457	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5994458	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5994461	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5998196	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5998198	0.83[EUR][1000 genomes]
rs5998201	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5998204	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8142505	0.87[AMR][1000 genomes];0.86[EUR][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	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
2	esv3443461	chr22:32339402-32341825	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr22:32339400-32341600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr22:32339600-32341200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr22:32339600-32341200	Active TSS	HSMMtube	muscle
4	chr22:32339600-32341600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr22:32339600-32341600	Active TSS	Fetal Kidney	kidney
6	chr22:32339600-32342000	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr22:32339600-32342400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:32339600-32342400	Active TSS	Brain Angular Gyrus	brain
9	chr22:32339600-32342600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr22:32339600-32342800	Active TSS	Psoas Muscle	Psoas
11	chr22:32339600-32343200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr22:32339600-32343600	Active TSS	Aorta	Aorta
13	chr22:32339600-32343600	Active TSS	Right Atrium	heart
14	chr22:32339800-32341200	Active TSS	Placenta Amnion	Placenta Amnion
15	chr22:32339800-32341400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr22:32339800-32341400	Active TSS	Liver	Liver
17	chr22:32339800-32341400	Active TSS	Brain Substantia Nigra	brain
18	chr22:32339800-32341400	Active TSS	Thymus	Thymus
19	chr22:32339800-32341400	Active TSS	A549	lung
20	chr22:32339800-32341600	Active TSS	Colon Smooth Muscle	Colon
21	chr22:32339800-32341800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:32339800-32341800	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr22:32339800-32341800	Active TSS	Small Intestine	intestine
24	chr22:32339800-32342000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr22:32339800-32342000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:32339800-32342000	Active TSS	Left Ventricle	heart
27	chr22:32339800-32342200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr22:32339800-32342200	Active TSS	Ovary	ovary
29	chr22:32339800-32342600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr22:32339800-32342600	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr22:32339800-32343400	Active TSS	Lung	lung
32	chr22:32340000-32341200	Active TSS	Primary monocytes fromperipheralblood	blood
33	chr22:32340000-32341200	Active TSS	Primary B cells from peripheral blood	blood
34	chr22:32340000-32341200	Active TSS	Primary T cells from cord blood	blood
35	chr22:32340000-32341200	Active TSS	Primary hematopoietic stem cells	blood
36	chr22:32340000-32341200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr22:32340000-32341200	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr22:32340000-32341200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr22:32340000-32341200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr22:32340000-32341200	Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr22:32340000-32341200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr22:32340000-32341200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr22:32340000-32341200	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr22:32340000-32341200	Active TSS	Adipose Nuclei	Adipose
45	chr22:32340000-32341200	Active TSS	Fetal Brain Female	brain
46	chr22:32340000-32341200	Active TSS	Placenta	Placenta
47	chr22:32340000-32341200	Active TSS	Stomach Smooth Muscle	stomach
48	chr22:32340000-32341200	Active TSS	Dnd41	blood
49	chr22:32340000-32341200	Active TSS	HepG2	liver
50	chr22:32340000-32341200	Active TSS	Monocytes-CD14+_RO01746	blood

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