Variant report

Variant	rs73976793
Chromosome Location	chr2:173292035-173292036
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	E2F6	chr2:173291814-173292464	A549	lung:	n/a	chr2:173292261-173292271 chr2:173292349-173292358
2	POLR2A	chr2:173292006-173293150	HUVEC	blood vessel:	n/a	n/a
3	MAX	chr2:173291801-173293195	NB4	blood:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972
4	SIN3AK20	chr2:173291950-173293096	PANC-1	pancreas:	n/a	n/a
5	CTCF	chr2:173291980-173292130	GM12874	blood:	n/a	n/a
6	FOXA1	chr2:173291979-173292750	HepG2	liver:	n/a	n/a
7	CTCF	chr2:173291900-173292050	BJ	skin:	n/a	n/a
8	ZNF263	chr2:173291911-173292680	HEK293-T-REx	kidney:	n/a	n/a
9	TBP	chr2:173291928-173293848	HepG2	liver:	n/a	n/a
10	TCF12	chr2:173291846-173293252	ECC-1	luminal epithelium:	n/a	n/a
11	CTCF	chr2:173291960-173292110	A549	lung:	n/a	n/a
12	MAZ	chr2:173291769-173294408	IMR90	lung:	n/a	chr2:173294307-173294315 chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972
13	USF1	chr2:173291717-173292118	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr2:173291997-173292213	MCF-7	breast:	n/a	n/a
15	SMARCB1	chr2:173291938-173293478	Hela-S3	cervix:	n/a	chr2:173292077-173292086
16	CTCF	chr2:173292007-173292168	Fibrobl	skin:	n/a	n/a
17	JUND	chr2:173291904-173292109	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr2:173291948-173292616	HL-60	blood:	n/a	n/a
19	CTCF	chr2:173292028-173292094	Gliobla	brain:	n/a	n/a
20	CTCF	chr2:173292000-173292150	BJ	skin:	n/a	n/a
21	POLR2A	chr2:173291850-173293649	Hela-S3	cervix:	n/a	n/a
22	GABPA	chr2:173291890-173292216	K562	blood:	n/a	n/a
23	EP300	chr2:173291755-173292635	ECC-1	luminal epithelium:	n/a	chr2:173292326-173292342 chr2:173292100-173292116 chr2:173292342-173292358
24	MAX	chr2:173291785-173292624	K562	blood:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972
25	YY1	chr2:173291998-173292684	SK-N-SH_RA	brain:	n/a	chr2:173292098-173292112
26	MAX	chr2:173291781-173293601	Hela-S3	cervix:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972
27	CREB1	chr2:173291720-173293971	HepG2	liver:	n/a	n/a
28	MAZ	chr2:173291952-173293814	HepG2	liver:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972
29	CTCF	chr2:173291983-173292181	NHEK	skin:	n/a	n/a
30	E2F6	chr2:173291703-173292475	H1-hESC	embryonic stem cell:	n/a	chr2:173292261-173292271 chr2:173292349-173292358
31	USF2	chr2:173291890-173292123	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr2:173291913-173292495	HL-60	blood:	n/a	n/a
33	POLR2A	chr2:173291997-173292910	A549	lung:	n/a	n/a
34	CTCF	chr2:173292000-173292150	HBMEC	blood vessel:	n/a	n/a
35	POLR2A	chr2:173291466-173293613	Raji	blood:	n/a	n/a
36	EP300	chr2:173291906-173292591	HepG2	liver:	n/a	chr2:173292326-173292342 chr2:173292100-173292116 chr2:173292342-173292358
37	POLR2A	chr2:173291986-173292552	HepG2	liver:	n/a	n/a
38	POLR2A	chr2:173291815-173292682	H1-neurons	neurons:	n/a	n/a
39	E2F6	chr2:173291606-173292807	H1-hESC	embryonic stem cell:	n/a	chr2:173292770-173292782 chr2:173292261-173292271 chr2:173292729-173292739 chr2:173292759-173292773 chr2:173292756-173292770 chr2:173292349-173292358
40	SIN3AK20	chr2:173292009-173292598	HepG2	liver:	n/a	n/a
41	ELK1	chr2:173292011-173292182	Hela-S3	cervix:	n/a	n/a
42	MAX	chr2:173291779-173293536	H1-hESC	embryonic stem cell:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972
43	CTCF	chr2:173291980-173292130	HRPEpiC	eye:	n/a	n/a
44	CTCF	chr2:173291960-173292110	HRPEpiC	eye:	n/a	n/a
45	JUND	chr2:173291809-173292064	HepG2	liver:	n/a	n/a
46	CTCF	chr2:173292020-173292170	AG04449	skin:	n/a	n/a
47	CTCF	chr2:173292020-173292177	Kidney_OC	kidney:	n/a	n/a
48	MYC	chr2:173291972-173292232	HepG2	liver:	n/a	n/a
49	MAX	chr2:173291649-173293591	A549	lung:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972 chr2:173291677-173291688
50	SIN3A	chr2:173291860-173293986	H1-hESC	embryonic stem cell:	n/a	chr2:173292394-173292407

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:173292010-173292060	RPTEC	kidney:	n/a
2	chr2:173292010-173292060	T-47D	breast:	n/a
3	chr2:173292010-173292060	HUVEC	blood vessel:	n/a
4	chr2:173292010-173292060	A549	lung:	n/a
5	chr2:173292010-173292060	LNCaP	prostate:	n/a
6	chr2:173292010-173292060	Hela-S3	cervix:	n/a
7	chr2:173292010-173292060	BE2_C	brain:	n/a
8	chr2:173292010-173292060	AoSMC	blood vessel:	n/a
9	chr2:173292010-173292060	HIPEpiC	eye:	n/a
10	chr2:173292010-173292060	NHDF-neo	bronchial:	n/a
11	chr2:173292010-173292060	GM12891	blood:	n/a
12	chr2:173292010-173292060	AG09319	gingival:	n/a
13	chr2:173292010-173292060	SK-N-SH_RA	brain:	n/a
14	chr2:173292010-173292060	HepG2	liver:	n/a
15	chr2:173292010-173292060	HRE	kidney:	n/a
16	chr2:173292010-173292060	Hepatocyte	liver:	n/a
17	chr2:173292010-173292060	MCF-7	breast:	n/a
18	chr2:173292010-173292060	NHBE	bronchial:	n/a
19	chr2:173292010-173292060	HPAEpiC	pulmonary alveolar:	n/a
20	chr2:173292010-173292060	HRPEpiC	eye:	n/a
21	chr2:173292010-173292060	GM19239	blood:	n/a
22	chr2:173292010-173292060	HAEpiC	amniotic membrane:	n/a
23	chr2:173292010-173292060	AG09309	skin:	n/a
24	chr2:173292010-173292060	SAEC	small airway:	n/a
25	chr2:173292010-173292060	GM12878	blood:	n/a
26	chr2:173292010-173292060	NH-A	brain:	n/a
27	chr2:173292010-173292060	HEEpiC	esophagus:	n/a
28	chr2:173292010-173292060	BJ	skin:	n/a
29	chr2:173292010-173292060	SK-N-MC	brain:	n/a
30	chr2:173292010-173292060	Jurkat	blood:	n/a
31	chr2:173292010-173292060	CMK	blood:	n/a
32	chr2:173292010-173292060	GM12892	blood:	n/a
33	chr2:173292010-173292060	HCF	heart:	n/a
34	chr2:173292010-173292060	HMEC	breast:	n/a
35	chr2:173292010-173292060	PrEC	prostate:	n/a
36	chr2:173292010-173292060	GM06990	blood:	n/a
37	chr2:173292010-173292060	NT2-D1	testis:	n/a
38	chr2:173292010-173292060	ovcar-3	ovarian:	n/a
39	chr2:173292010-173292060	HNPCEpiC	eye:	n/a
40	chr2:173292010-173292060	HEK293	kidney:	embryo
41	chr2:173292010-173292060	H1-hESC	embryonic stem cell:	embryo
42	chr2:173292010-173292060	U87	brain:	n/a
43	chr2:173292010-173292060	AG10803	skin:	n/a
44	chr2:173292010-173292060	MCF10A-Er-Src	breast:	n/a
45	chr2:173292010-173292060	HCM	heart:	n/a
46	chr2:173292010-173292060	HCT-116	colon:	n/a
47	chr2:173292010-173292060	PFSK-1	brain:	n/a
48	chr2:173292010-173292060	NB4	blood:	n/a
49	chr2:173292010-173292060	ProgFib	skin:	n/a
50	chr2:173292010-173292060	SKMC	muscle:	n/a

Variant related genes	Relation type
ITGA6	TF binding region
ITGA6	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs60202603	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv875414	chr2:173267081-173307756	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1847874	chr2:173277361-173308318	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv583663	chr2:173287832-173307756	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv583664	chr2:173289239-173307756	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3322868	chr2:173291131-173293679	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173291200-173292200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
2	chr2:173291400-173292200	Flanking Active TSS	Duodenum Mucosa	Duodenum
3	chr2:173291400-173292200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
4	chr2:173291600-173292200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr2:173291600-173292200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr2:173291600-173292200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
7	chr2:173291600-173292200	Bivalent Enhancer	Fetal Brain Male	brain
8	chr2:173291600-173292200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr2:173291600-173292200	Flanking Active TSS	NHEK	skin
10	chr2:173291600-173292400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr2:173291600-173293200	Flanking Bivalent TSS/Enh	Dnd41	blood
12	chr2:173291600-173293600	Active TSS	A549	lung
13	chr2:173291600-173294000	Active TSS	HSMMtube	muscle
14	chr2:173291600-173294400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr2:173291600-173295200	Active TSS	Rectal Smooth Muscle	rectum
16	chr2:173291800-173292200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
17	chr2:173291800-173292200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:173291800-173292200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:173291800-173292200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:173291800-173292200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:173291800-173292200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:173291800-173292200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:173291800-173292200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
24	chr2:173291800-173292200	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr2:173291800-173292200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:173291800-173292200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:173291800-173292200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:173291800-173292200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:173291800-173292200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr2:173291800-173292200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:173291800-173292200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:173291800-173292200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:173291800-173292200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:173291800-173292200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:173291800-173292200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:173291800-173292200	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr2:173291800-173292200	Flanking Active TSS	Liver	Liver
38	chr2:173291800-173292200	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr2:173291800-173292200	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr2:173291800-173292200	Flanking Active TSS	Colonic Mucosa	Colon
41	chr2:173291800-173292200	Flanking Active TSS	Esophagus	oesophagus
42	chr2:173291800-173292200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr2:173291800-173292200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
44	chr2:173291800-173292200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
45	chr2:173291800-173292200	Flanking Active TSS	Fetal Thymus	thymus
46	chr2:173291800-173292200	Flanking Active TSS	Left Ventricle	heart
47	chr2:173291800-173292200	Flanking Active TSS	Lung	lung
48	chr2:173291800-173292200	Flanking Active TSS	Right Ventricle	heart
49	chr2:173291800-173292200	Flanking Active TSS	Stomach Mucosa	stomach
50	chr2:173291800-173292200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach

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