Variant report

Variant	rs340606
Chromosome Location	chr2:21022941-21022942
allele	A/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	POLR2A	chr2:21021613-21023289	K562	blood:	n/a	n/a
2	EP300	chr2:21022358-21023218	A549	lung:	n/a	chr2:21022854-21022861
3	EP300	chr2:21022360-21023037	GM12878	blood:	n/a	chr2:21022854-21022861
4	POLR2A	chr2:21022321-21023179	GM12878	blood:	n/a	n/a
5	ELF1	chr2:21022638-21023123	HepG2	liver:	n/a	chr2:21022851-21022862 chr2:21022851-21022862
6	BCLAF1	chr2:21022106-21023187	GM12878	blood:	n/a	chr2:21022853-21022862
7	UBTF	chr2:21022226-21023063	K562	blood:	n/a	n/a
8	USF1	chr2:21022658-21022974	GM12878	blood:	n/a	chr2:21022867-21022878
9	GABPA	chr2:21022427-21023072	K562	blood:	n/a	chr2:21022925-21022934
10	HEY1	chr2:21022060-21023192	K562	blood:	n/a	chr2:21022874-21022883 chr2:21022872-21022881
11	MAX	chr2:21022158-21023144	NB4	blood:	n/a	chr2:21022679-21022688
12	MAZ	chr2:21022311-21023081	HepG2	liver:	n/a	chr2:21022679-21022688
13	EP300	chr2:21022625-21023148	HepG2	liver:	n/a	chr2:21022854-21022861
14	CTBP2	chr2:21022373-21023074	H1-hESC	embryonic stem cell:	n/a	n/a
15	TBL1XR1	chr2:21022302-21023257	GM12878	blood:	n/a	n/a
16	POLR2A	chr2:21022250-21023250	K562	blood:	n/a	n/a
17	POLR2A	chr2:21021864-21023397	GM19099	blood:	n/a	n/a
18	TAL1	chr2:21022271-21023020	K562	blood:	n/a	chr2:21022666-21022681
19	POLR2A	chr2:21021580-21023238	MCF10A-Er-Src	breast:	n/a	n/a
20	MAX	chr2:21022129-21023227	HepG2	liver:	n/a	chr2:21022679-21022688
21	NFYB	chr2:21022894-21023141	Hela-S3	cervix:	n/a	n/a
22	SIN3AK20	chr2:21022551-21022996	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr2:21022548-21023195	PANC-1	pancreas:	n/a	n/a
24	USF1	chr2:21022528-21022996	K562	blood:	n/a	chr2:21022867-21022878
25	ELK1	chr2:21022379-21023107	Hela-S3	cervix:	n/a	chr2:21022853-21022862 chr2:21022853-21022862
26	POLR2A	chr2:21021836-21023183	H1-hESC	embryonic stem cell:	n/a	n/a
27	CREB1	chr2:21022447-21023154	K562	blood:	n/a	chr2:21022871-21022884
28	THAP1	chr2:21022800-21022982	K562	blood:	n/a	n/a
29	IRF4	chr2:21022621-21023004	GM12878	blood:	n/a	n/a
30	TEAD4	chr2:21022552-21023121	K562	blood:	n/a	n/a
31	IRF4	chr2:21022551-21023085	GM12878	blood:	n/a	n/a
32	POLR2A	chr2:21022499-21023180	SK-N-SH	brain:	n/a	n/a
33	STAT5A	chr2:21022129-21023267	GM12878	blood:	n/a	n/a
34	SIN3A	chr2:21022441-21023165	GM12878	blood:	n/a	n/a
35	POLR2A	chr2:21022213-21023157	HCT-116	colon:	n/a	n/a
36	SMC3	chr2:21022683-21023126	GM12878	blood:	n/a	n/a
37	CHD2	chr2:21022442-21023082	HepG2	liver:	n/a	n/a
38	ELF1	chr2:21022372-21023206	GM12878	blood:	n/a	chr2:21022851-21022862 chr2:21022851-21022862
39	ETS1	chr2:21022308-21023115	K562	blood:	n/a	chr2:21022854-21022864 chr2:21022853-21022862 chr2:21022853-21022862 chr2:21022853-21022862 chr2:21022853-21022862 chr2:21022849-21022865 chr2:21022853-21022864 chr2:21022853-21022862 chr2:21022853-21022862 chr2:21022853-21022862 chr2:21022850-21022865
40	POLR2A	chr2:21021884-21023172	HepG2	liver:	n/a	n/a
41	USF1	chr2:21022160-21023113	A549	lung:	n/a	chr2:21022867-21022878
42	MYC	chr2:21022534-21023094	K562	blood:	n/a	chr2:21022679-21022688
43	WRNIP1	chr2:21022276-21023136	GM12878	blood:	n/a	n/a
44	POLR2A	chr2:21021732-21023171	K562	blood:	n/a	n/a
45	POLR2A	chr2:21022390-21023011	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr2:21022237-21023179	HUVEC	blood vessel:	n/a	n/a
47	EP300	chr2:21022623-21023106	SK-N-SH_RA	brain:	n/a	chr2:21022854-21022861
48	GABPA	chr2:21022726-21022996	Hela-S3	cervix:	n/a	chr2:21022925-21022934
49	POLR2A	chr2:21021751-21023279	GM12892	blood:	n/a	n/a
50	POLR2A	chr2:21022129-21023173	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:21022933-21022983	AG09319	gingival:	n/a
2	chr2:21022933-21022983	K562	blood:	n/a
3	chr2:21022933-21022983	U87	brain:	n/a
4	chr2:21022933-21022983	LNCaP	prostate:	n/a
5	chr2:21022933-21022983	GM06990	blood:	n/a
6	chr2:21022933-21022983	SK-N-SH_RA	brain:	n/a
7	chr2:21022933-21022983	HRE	kidney:	n/a
8	chr2:21022933-21022983	H1-hESC	embryonic stem cell:	embryo
9	chr2:21022933-21022983	Hepatocyte	liver:	n/a
10	chr2:21022933-21022983	PANC-1	pancreas:	n/a
11	chr2:21022933-21022983	SKMC	muscle:	n/a
12	chr2:21022933-21022983	SAEC	small airway:	n/a
13	chr2:21022933-21022983	MCF10A-Er-Src	breast:	n/a
14	chr2:21022933-21022983	HUVEC	blood vessel:	n/a
15	chr2:21022933-21022983	AG04450	lung:	fetal
16	chr2:21022933-21022983	HCPEpiC	choroid plexus:	n/a
17	chr2:21022933-21022983	HRPEpiC	eye:	n/a
18	chr2:21022933-21022983	NB4	blood:	n/a
19	chr2:21022933-21022983	HEEpiC	esophagus:	n/a
20	chr2:21022933-21022983	HPAEpiC	pulmonary alveolar:	n/a
21	chr2:21022933-21022983	HCM	heart:	n/a
22	chr2:21022933-21022983	SK-N-SH	brain:	n/a
23	chr2:21022933-21022983	NHDF-neo	bronchial:	n/a
24	chr2:21022933-21022983	AG10803	skin:	n/a
25	chr2:21022933-21022983	GM19239	blood:	n/a
26	chr2:21022933-21022983	ProgFib	skin:	n/a
27	chr2:21022933-21022983	BJ	skin:	n/a
28	chr2:21022933-21022983	PFSK-1	brain:	n/a
29	chr2:21022933-21022983	GM12878	blood:	n/a
30	chr2:21022933-21022983	HAEpiC	amniotic membrane:	n/a
31	chr2:21022933-21022983	HepG2	liver:	n/a
32	chr2:21022933-21022983	HMEC	breast:	n/a
33	chr2:21022933-21022983	HEK293	kidney:	embryo
34	chr2:21022933-21022983	ovcar-3	ovarian:	n/a
35	chr2:21022933-21022983	HNPCEpiC	eye:	n/a
36	chr2:21022933-21022983	HCT-116	colon:	n/a
37	chr2:21022933-21022983	GM12892	blood:	n/a
38	chr2:21022933-21022983	T-47D	breast:	n/a
39	chr2:21022933-21022983	A549	lung:	n/a
40	chr2:21022933-21022983	IMR90	lung:	fetal
41	chr2:21022933-21022983	PrEC	prostate:	n/a
42	chr2:21022933-21022983	AG09309	skin:	n/a
43	chr2:21022933-21022983	GM12891	blood:	n/a
44	chr2:21022933-21022983	Hela-S3	cervix:	n/a
45	chr2:21022933-21022983	NHBE	bronchial:	n/a
46	chr2:21022933-21022983	HCF	heart:	n/a
47	chr2:21022933-21022983	RPTEC	kidney:	n/a
48	chr2:21022933-21022983	AoSMC	blood vessel:	n/a
49	chr2:21022933-21022983	HIPEpiC	eye:	n/a
50	chr2:21022933-21022983	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:20850782..20852679-chr2:21021448..21023947,2	K562	blood:
2	chr2:21021863..21023971-chr2:97534039..97536647,2	MCF-7	breast:
3	chr2:21022254..21023209-chr2:85133885..85134539,2	Hela-S3	cervix:
4	chr2:20550750..20552615-chr2:21021758..21023805,2	K562	blood:
5	chr15:52859630..52861792-chr2:21021008..21023718,2	MCF-7	breast:
6	chr2:21021759..21024284-chr2:21059514..21062334,2	MCF-7	breast:
7	chr2:20553036..20555309-chr2:21020299..21023238,2	K562	blood:

Variant related genes	Relation type
C2orf43	TF binding region
C2orf43	CpG island
ENSG00000168758	Chromatin interaction
ENSG00000055917	Chromatin interaction
ENSG00000236436	Chromatin interaction
ENSG00000252216	Chromatin interaction
ENSG00000186854	Chromatin interaction
ENSG00000118960	Chromatin interaction
ENSG00000128989	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12468102	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12469525	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12476001	0.96[EUR][1000 genomes]
rs16982023	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16982026	1.00[CEU][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16988072	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs16988079	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs173121	0.81[AFR][1000 genomes]
rs17390286	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs340601	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs340602	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs340603	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs340604	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs340607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs340615	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs472692	1.00[CEU][hapmap];0.81[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs490710	1.00[CEU][hapmap];0.97[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs492399	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4971527	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4971529	0.96[EUR][1000 genomes]
rs514459	0.86[YRI][hapmap]
rs518968	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs519025	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs535022	0.89[YRI][hapmap]
rs575246	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57864736	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs597781	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs645100	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs645150	0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs649018	1.00[CEU][hapmap];0.97[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs666471	1.00[CEU][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs685246	1.00[CEU][hapmap];0.90[YRI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7600933	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs839915	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21021400-21023400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:21021400-21023400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:21021400-21023400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:21021600-21023000	Active TSS	Primary hematopoietic stem cells	blood
5	chr2:21021600-21023000	Active TSS	HSMM	muscle
6	chr2:21021600-21023200	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr2:21021600-21023200	Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr2:21021600-21023200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:21021600-21023200	Active TSS	Muscle Satellite Cultured Cells	--
10	chr2:21021600-21023200	Active TSS	Aorta	Aorta
11	chr2:21021600-21023200	Active TSS	Fetal Stomach	stomach
12	chr2:21021600-21023200	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr2:21021600-21023200	Active TSS	Small Intestine	intestine
14	chr2:21021600-21023200	Active TSS	Dnd41	blood
15	chr2:21021600-21023200	Active TSS	HMEC	breast
16	chr2:21021600-21023200	Active TSS	HSMMtube	muscle
17	chr2:21021600-21023200	Active TSS	HUVEC	blood vessel
18	chr2:21021600-21023200	Active TSS	NH-A	brain
19	chr2:21021600-21023200	Active TSS	NHEK	skin
20	chr2:21021600-21023200	Active TSS	Osteobl	bone
21	chr2:21021600-21023400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr2:21021600-21023400	Active TSS	H1 Cell Line	embryonic stem cell
23	chr2:21021600-21023400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:21021600-21023400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:21021600-21023400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:21021600-21023400	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr2:21021600-21023400	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr2:21021600-21023400	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr2:21021600-21023400	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr2:21021600-21023400	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr2:21021600-21023400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:21021600-21023400	Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr2:21021600-21023400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:21021600-21023400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:21021600-21023400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:21021600-21023400	Active TSS	Liver	Liver
37	chr2:21021600-21023400	Active TSS	Brain Angular Gyrus	brain
38	chr2:21021600-21023400	Active TSS	Colonic Mucosa	Colon
39	chr2:21021600-21023400	Active TSS	Duodenum Mucosa	Duodenum
40	chr2:21021600-21023400	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr2:21021600-21023400	Active TSS	Fetal Brain Female	brain
42	chr2:21021600-21023400	Active TSS	Fetal Intestine Large	intestine
43	chr2:21021600-21023400	Active TSS	Fetal Intestine Small	intestine
44	chr2:21021600-21023400	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr2:21021600-21023400	Active TSS	Fetal Thymus	thymus
46	chr2:21021600-21023400	Active TSS	Psoas Muscle	Psoas
47	chr2:21021600-21023400	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr2:21021600-21023400	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr2:21021600-21023400	Active TSS	Rectal Smooth Muscle	rectum
50	chr2:21021600-21023400	Active TSS	Right Ventricle	heart

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