Variant report

Variant	rs743605
Chromosome Location	chr2:172967302-172967303
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	chr2:172967018-172968145	K562	blood:	n/a	n/a
2	TEAD4	chr2:172967104-172968204	K562	blood:	n/a	n/a
3	CHD2	chr2:172967298-172967376	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:172967033-172967918	K562	blood:	n/a	n/a
5	USF2	chr2:172967278-172968103	H1-hESC	embryonic stem cell:	n/a	chr2:172967667-172967676 chr2:172967660-172967681 chr2:172967666-172967675 chr2:172967664-172967677 chr2:172967665-172967676 chr2:172967666-172967675 chr2:172967665-172967674
6	BHLHE40	chr2:172967110-172969049	GM12878	blood:	n/a	chr2:172967667-172967676 chr2:172967660-172967681 chr2:172967666-172967675 chr2:172967664-172967677 chr2:172967666-172967675 chr2:172967665-172967674
7	ZBTB7A	chr2:172966904-172967439	K562	blood:	n/a	n/a
8	POLR2A	chr2:172965990-172968073	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr2:172967288-172967969	ECC-1	luminal epithelium:	n/a	n/a
10	MAX	chr2:172966548-172968479	A549	lung:	n/a	chr2:172968135-172968146 chr2:172968135-172968144 chr2:172967666-172967675
11	MAZ	chr2:172966780-172967994	K562	blood:	n/a	chr2:172967666-172967675
12	THAP1	chr2:172967221-172968002	K562	blood:	n/a	n/a
13	POLR2A	chr2:172966921-172967885	U87	brain:	n/a	n/a
14	E2F6	chr2:172966890-172968073	K562	blood:	n/a	chr2:172967698-172967707
15	POLR2A	chr2:172967196-172967969	PANC-1	pancreas:	n/a	n/a
16	EGR1	chr2:172966710-172967538	K562	blood:	n/a	n/a
17	POLR2A	chr2:172966788-172967966	K562	blood:	n/a	n/a
18	RAD21	chr2:172967105-172967790	IMR90	lung:	n/a	n/a
19	ELF1	chr2:172966782-172967933	GM12878	blood:	n/a	n/a
20	FOXA1	chr2:172967215-172967522	T-47D	breast:	n/a	n/a
21	MAX	chr2:172966445-172968388	ECC-1	luminal epithelium:	n/a	chr2:172968135-172968146 chr2:172968135-172968144 chr2:172967666-172967675
22	YY1	chr2:172966995-172967980	K562	blood:	n/a	n/a
23	CTCF	chr2:172967280-172967430	GM12865	blood:	n/a	n/a
24	ETS1	chr2:172967045-172967932	K562	blood:	n/a	chr2:172967421-172967432
25	YY1	chr2:172967238-172967803	GM12892	blood:	n/a	n/a
26	ZNF384	chr2:172967257-172967311	K562	blood:	n/a	n/a
27	EGR1	chr2:172966777-172967509	K562	blood:	n/a	n/a
28	SIN3AK20	chr2:172966848-172968016	K562	blood:	n/a	n/a
29	MXI1	chr2:172966911-172969075	SK-N-SH	brain:	n/a	chr2:172968135-172968144
30	POLR2A	chr2:172966927-172967885	U87	brain:	n/a	n/a
31	POLR2A	chr2:172966283-172968086	H1-neurons	neurons:	n/a	n/a
32	TCF12	chr2:172967100-172968058	A549	lung:	n/a	n/a
33	USF2	chr2:172967274-172967935	HepG2	liver:	n/a	chr2:172967667-172967676 chr2:172967660-172967681 chr2:172967666-172967675 chr2:172967664-172967677 chr2:172967665-172967676 chr2:172967666-172967675 chr2:172967665-172967674
34	POLR2A	chr2:172967089-172967960	MCF-7	breast:	n/a	n/a
35	MYC	chr2:172966827-172968916	K562	blood:	n/a	chr2:172968135-172968146 chr2:172968135-172968144 chr2:172967666-172967675
36	NR2F2	chr2:172967166-172968206	K562	blood:	n/a	n/a
37	RAD21	chr2:172967089-172969188	HCT-116	colon:	n/a	n/a
38	POLR2A	chr2:172967215-172967504	A549	lung:	n/a	n/a
39	POLR2A	chr2:172967221-172967950	HepG2	liver:	n/a	n/a
40	BHLHE40	chr2:172966354-172968142	HepG2	liver:	n/a	chr2:172967667-172967676 chr2:172967660-172967681 chr2:172967666-172967675 chr2:172967664-172967677 chr2:172967666-172967675 chr2:172967665-172967674
41	EGR1	chr2:172966642-172968051	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr2:172967282-172967853	GM12892	blood:	n/a	n/a
43	MAX	chr2:172966444-172968095	H1-hESC	embryonic stem cell:	n/a	chr2:172967666-172967675
44	USF1	chr2:172966906-172968112	SK-N-SH	brain:	n/a	chr2:172967667-172967676 chr2:172967660-172967681 chr2:172967666-172967675 chr2:172967664-172967677 chr2:172967666-172967675 chr2:172967754-172967765 chr2:172967665-172967674
45	ZBTB7A	chr2:172966658-172968127	ECC-1	luminal epithelium:	n/a	n/a
46	SIN3AK20	chr2:172967069-172968039	PANC-1	pancreas:	n/a	n/a
47	MAX	chr2:172967198-172968257	A549	lung:	n/a	chr2:172968135-172968146 chr2:172968135-172968144 chr2:172967666-172967675
48	MXI1	chr2:172966886-172968147	HepG2	liver:	n/a	chr2:172968135-172968144
49	MAX	chr2:172966867-172968382	A549	lung:	n/a	chr2:172968135-172968146 chr2:172968135-172968144 chr2:172967666-172967675
50	CTCF	chr2:172967240-172967390	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:172967274-172967324	NHBE	bronchial:	n/a
2	chr2:172967274-172967324	PANC-1	pancreas:	n/a
3	chr2:172967274-172967324	Jurkat	blood:	n/a
4	chr2:172967274-172967324	SK-N-SH	brain:	n/a
5	chr2:172967274-172967324	HEEpiC	esophagus:	n/a
6	chr2:172967274-172967324	SK-N-SH_RA	brain:	n/a
7	chr2:172967274-172967324	AG10803	skin:	n/a
8	chr2:172967274-172967324	HUVEC	blood vessel:	n/a
9	chr2:172967274-172967324	HepG2	liver:	n/a
10	chr2:172967274-172967324	BE2_C	brain:	n/a
11	chr2:172967274-172967324	K562	blood:	n/a
12	chr2:172967274-172967324	HAEpiC	amniotic membrane:	n/a
13	chr2:172967274-172967324	U87	brain:	n/a
14	chr2:172967274-172967324	HNPCEpiC	eye:	n/a
15	chr2:172967274-172967324	PrEC	prostate:	n/a
16	chr2:172967274-172967324	HEK293	kidney:	embryo
17	chr2:172967274-172967324	ECC-1	luminal epithelium:	n/a
18	chr2:172967274-172967324	HL-60	blood:	n/a
19	chr2:172967274-172967324	T-47D	breast:	n/a
20	chr2:172967274-172967324	MCF10A-Er-Src	breast:	n/a
21	chr2:172967274-172967324	HCM	heart:	n/a
22	chr2:172967274-172967324	HRCEpiC	kidney:	n/a
23	chr2:172967274-172967324	SAEC	small airway:	n/a
24	chr2:172967274-172967324	HCF	heart:	n/a
25	chr2:172967274-172967324	AoSMC	blood vessel:	n/a
26	chr2:172967274-172967324	HRPEpiC	eye:	n/a
27	chr2:172967274-172967324	GM06990	blood:	n/a
28	chr2:172967274-172967324	NH-A	brain:	n/a
29	chr2:172967274-172967324	AG09309	skin:	n/a
30	chr2:172967274-172967324	MCF-7	breast:	n/a
31	chr2:172967274-172967324	GM12878	blood:	n/a
32	chr2:172967274-172967324	LNCaP	prostate:	n/a
33	chr2:172967274-172967324	SK-N-MC	brain:	n/a
34	chr2:172967274-172967324	HMEC	breast:	n/a
35	chr2:172967274-172967324	NHDF-neo	bronchial:	n/a
36	chr2:172967274-172967324	Hela-S3	cervix:	n/a
37	chr2:172967274-172967324	HPAEpiC	pulmonary alveolar:	n/a
38	chr2:172967274-172967324	GM19239	blood:	n/a
39	chr2:172967274-172967324	AG04449	skin:	fetal
40	chr2:172967274-172967324	RPTEC	kidney:	n/a
41	chr2:172967274-172967324	NB4	blood:	n/a
42	chr2:172967274-172967324	AG04450	lung:	fetal
43	chr2:172967274-172967324	HIPEpiC	eye:	n/a
44	chr2:172967274-172967324	IMR90	lung:	fetal
45	chr2:172967274-172967324	SKMC	muscle:	n/a
46	chr2:172967274-172967324	H1-hESC	embryonic stem cell:	embryo
47	chr2:172967274-172967324	BJ	skin:	n/a
48	chr2:172967274-172967324	HCPEpiC	choroid plexus:	n/a
49	chr2:172967274-172967324	NT2-D1	testis:	n/a
50	chr2:172967274-172967324	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:172777989..172784973-chr2:172962042..172968003,11	K562	blood:
2	chr2:172785631..172787441-chr2:172963287..172967439,3	MCF-7	breast:
3	chr19:47291239..47292017-chr2:172967027..172967991,2	NB4	blood:
4	chr2:172560578..172564258-chr2:172967186..172970481,4	K562	blood:
5	chr2:172949657..172950497-chr2:172967128..172967730,2	MCF-7	breast:
6	chr2:172863226..172865802-chr2:172966081..172969208,5	MCF-7	breast:
7	chr2:172289978..172291717-chr2:172966936..172969521,2	K562	blood:
8	chr2:172289880..172292267-chr2:172966936..172969958,3	K562	blood:
9	chr2:172862808..172868920-chr2:172961807..172971063,13	K562	blood:
10	chr2:172966170..172969056-chr2:173419829..173422762,2	MCF-7	breast:
11	chr2:172949188..172950217-chr2:172966884..172967778,3	MCF-7	breast:
12	chr2:172915830..172918019-chr2:172965851..172967372,2	MCF-7	breast:
13	chr2:172861569..172867068-chr2:172965912..172971063,13	K562	blood:
14	chr2:172778049..172781927-chr2:172965294..172970550,9	K562	blood:
15	chr2:172966211..172967965-chr7:5568896..5571228,2	MCF-7	breast:
16	chr2:172542535..172545589-chr2:172963585..172967366,4	K562	blood:

Variant related genes	Relation type
ENSG00000236651	TF binding region
ENSG00000236651	CpG island
ENSG00000225205	Chromatin interaction
ENSG00000144355	Chromatin interaction
ENSG00000152256	Chromatin interaction
ENSG00000115827	Chromatin interaction
ENSG00000077380	Chromatin interaction
ENSG00000115840	Chromatin interaction
ENSG00000123600	Chromatin interaction
ENSG00000128708	Chromatin interaction
ENSG00000172878	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000105281	Chromatin interaction

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

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

rs_ID	r²[population]
rs17726078	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2016394	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2357322	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.95[ASN][1000 genomes]

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172963600-172967800	Bivalent Enhancer	Stomach Mucosa	stomach
2	chr2:172963800-172967800	Active TSS	HSMM	muscle
3	chr2:172964000-172968400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:172964400-172967400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
5	chr2:172964600-172967400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:172964600-172968400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
7	chr2:172965000-172967800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr2:172965000-172967800	Bivalent Enhancer	Fetal Heart	heart
9	chr2:172965400-172967400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
10	chr2:172965800-172967800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
11	chr2:172966000-172967400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
12	chr2:172966000-172967400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
13	chr2:172966000-172967800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:172966000-172968600	Bivalent Enhancer	Fetal Brain Male	brain
15	chr2:172966000-172968800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
16	chr2:172966200-172967400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:172966200-172967400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
18	chr2:172966200-172967800	Active TSS	HSMMtube	muscle
19	chr2:172966200-172968000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr2:172966200-172968000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:172966200-172968000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
22	chr2:172966200-172968600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
23	chr2:172966200-172968800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:172966400-172967400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:172966400-172967400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
26	chr2:172966400-172967400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
27	chr2:172966400-172967400	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
28	chr2:172966400-172967400	Flanking Bivalent TSS/Enh	Dnd41	blood
29	chr2:172966400-172967600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:172966400-172968000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
31	chr2:172966400-172968000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
32	chr2:172966400-172968000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
33	chr2:172966400-172968200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
34	chr2:172966400-172968200	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:172966400-172968200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:172966400-172968200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:172966400-172968200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
38	chr2:172966400-172968400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
39	chr2:172966600-172967400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
40	chr2:172966600-172967400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:172966600-172967400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
42	chr2:172966600-172967400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr2:172966600-172967800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr2:172966600-172968000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
45	chr2:172966600-172968000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
46	chr2:172966600-172968000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
47	chr2:172966600-172968000	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
48	chr2:172966600-172968000	Flanking Active TSS	Pancreas	Pancrea
49	chr2:172966600-172968200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:172966600-172968200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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