Variant report

Variant	rs74034925
Chromosome Location	chr14:21924398-21924399
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:500)
CpG islands
(count:61)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:21924255-21924821	MCF-7	breast:	n/a	n/a
2	TCF7L2	chr14:21923696-21924846	Hela-S3	cervix:	n/a	n/a
3	SRF	chr14:21924068-21924680	HepG2	liver:	n/a	n/a
4	MXI1	chr14:21922556-21925076	SK-N-SH	brain:	n/a	n/a
5	STAT3	chr14:21924014-21924997	MCF10A-Er-Src	breast:	n/a	chr14:21924081-21924093 chr14:21924600-21924608 chr14:21924401-21924408 chr14:21924212-21924223
6	NFYB	chr14:21924142-21924543	GM12878	blood:	n/a	chr14:21924338-21924353
7	TCF12	chr14:21923784-21925030	A549	lung:	n/a	chr14:21924047-21924054
8	RAD21	chr14:21924316-21924788	SK-N-SH_RA	brain:	n/a	chr14:21924334-21924346 chr14:21924324-21924334
9	MYC	chr14:21923931-21924845	K562	blood:	n/a	chr14:21924001-21924011
10	POLR2A	chr14:21923730-21924808	ECC-1	luminal epithelium:	n/a	n/a
11	KAP1	chr14:21924021-21924883	HEK293	kidney:	n/a	n/a
12	MYC	chr14:21923825-21924992	MCF10A-Er-Src	breast:	n/a	chr14:21924001-21924011
13	JUN	chr14:21924258-21924725	K562	blood:	n/a	n/a
14	POLR2A	chr14:21923776-21925071	K562	blood:	n/a	n/a
15	POLR2A	chr14:21923893-21924891	GM12892	blood:	n/a	n/a
16	MAZ	chr14:21923973-21924825	K562	blood:	n/a	chr14:21924001-21924011
17	MAZ	chr14:21924005-21924857	HepG2	liver:	n/a	n/a
18	SIN3AK20	chr14:21923779-21924903	MCF-7	breast:	n/a	n/a
19	USF2	chr14:21924035-21924435	H1-hESC	embryonic stem cell:	n/a	n/a
20	SIN3AK20	chr14:21922945-21925056	MCF-7	breast:	n/a	n/a
21	SP2	chr14:21924149-21924485	K562	blood:	n/a	chr14:21924319-21924334
22	HEY1	chr14:21923785-21924990	HepG2	liver:	n/a	n/a
23	MXI1	chr14:21922730-21924996	IMR90	lung:	n/a	n/a
24	MYC	chr14:21924166-21924405	GM12878	blood:	n/a	n/a
25	WRNIP1	chr14:21924021-21924811	GM12878	blood:	n/a	n/a
26	POLR2A	chr14:21923836-21924897	GM12891	blood:	n/a	n/a
27	SP1	chr14:21924098-21924826	H1-hESC	embryonic stem cell:	n/a	chr14:21924320-21924329 chr14:21924320-21924334 chr14:21924319-21924331 chr14:21924319-21924331 chr14:21924321-21924330
28	CTCF	chr14:21924275-21925021	GM12878	blood:	n/a	n/a
29	USF1	chr14:21924055-21924723	A549	lung:	n/a	n/a
30	FOXM1	chr14:21923974-21924807	GM12878	blood:	n/a	n/a
31	CTCF	chr14:21924347-21925031	K562	blood:	n/a	n/a
32	MAX	chr14:21924020-21924770	NB4	blood:	n/a	n/a
33	POU2F2	chr14:21923904-21924937	GM12878	blood:	n/a	n/a
34	CTCF	chr14:21924351-21924680	Lung_OC	lung:	n/a	n/a
35	ARID3A	chr14:21923992-21924994	HepG2	liver:	n/a	n/a
36	POLR2A	chr14:21923971-21924908	HepG2	liver:	n/a	n/a
37	RAD21	chr14:21924289-21924847	A549	lung:	n/a	chr14:21924334-21924346 chr14:21924324-21924334
38	CREB1	chr14:21924041-21924843	H1-hESC	embryonic stem cell:	n/a	n/a
39	MYC	chr14:21923747-21924771	A549	lung:	n/a	chr14:21924001-21924011
40	POLR2A	chr14:21923826-21924905	IMR90	lung:	n/a	n/a
41	YY1	chr14:21924084-21924840	ECC-1	luminal epithelium:	n/a	chr14:21924606-21924628 chr14:21924609-21924617 chr14:21924604-21924623 chr14:21924604-21924621
42	MAX	chr14:21924005-21924745	A549	lung:	n/a	n/a
43	NFYB	chr14:21924209-21924540	K562	blood:	n/a	chr14:21924338-21924353
44	CBX3	chr14:21924355-21924804	K562	blood:	n/a	n/a
45	MAX	chr14:21923737-21924939	A549	lung:	n/a	chr14:21924001-21924011
46	CHD2	chr14:21924000-21924837	GM12878	blood:	n/a	chr14:21924071-21924081
47	YY1	chr14:21923930-21925119	SK-N-SH	brain:	n/a	chr14:21924606-21924628 chr14:21924609-21924617 chr14:21924604-21924623 chr14:21923976-21923985 chr14:21924604-21924621
48	TBP	chr14:21924084-21924856	GM12878	blood:	n/a	n/a
49	ELF1	chr14:21924037-21924757	SK-N-SH	brain:	n/a	chr14:21924395-21924408
50	TAF1	chr14:21924001-21924795	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:21924393-21924443	HCPEpiC	choroid plexus:	n/a
2	chr14:21924393-21924443	SK-N-SH	brain:	n/a
3	chr14:21924393-21924443	ProgFib	skin:	n/a
4	chr14:21924393-21924443	HMEC	breast:	n/a
5	chr14:21924393-21924443	AG09309	skin:	n/a
6	chr14:21924393-21924443	MCF-7	breast:	n/a
7	chr14:21924393-21924443	PrEC	prostate:	n/a
8	chr14:21924393-21924443	IMR90	lung:	fetal
9	chr14:21924393-21924443	HRE	kidney:	n/a
10	chr14:21924393-21924443	NT2-D1	testis:	n/a
11	chr14:21924393-21924443	HCM	heart:	n/a
12	chr14:21924393-21924443	HIPEpiC	eye:	n/a
13	chr14:21924393-21924443	GM12892	blood:	n/a
14	chr14:21924393-21924443	CMK	blood:	n/a
15	chr14:21924393-21924443	NH-A	brain:	n/a
16	chr14:21924393-21924443	NHBE	bronchial:	n/a
17	chr14:21924393-21924443	MCF10A-Er-Src	breast:	n/a
18	chr14:21924393-21924443	PFSK-1	brain:	n/a
19	chr14:21924393-21924443	NHDF-neo	bronchial:	n/a
20	chr14:21924393-21924443	HNPCEpiC	eye:	n/a
21	chr14:21924393-21924443	T-47D	breast:	n/a
22	chr14:21924393-21924443	HUVEC	blood vessel:	n/a
23	chr14:21924393-21924443	NB4	blood:	n/a
24	chr14:21924393-21924443	HepG2	liver:	n/a
25	chr14:21924393-21924443	AG04449	skin:	fetal
26	chr14:21924393-21924443	AoSMC	blood vessel:	n/a
27	chr14:21924393-21924443	HRCEpiC	kidney:	n/a
28	chr14:21924393-21924443	HPAEpiC	pulmonary alveolar:	n/a
29	chr14:21924393-21924443	BE2_C	brain:	n/a
30	chr14:21924393-21924443	Jurkat	blood:	n/a
31	chr14:21924393-21924443	HRPEpiC	eye:	n/a
32	chr14:21924393-21924443	ovcar-3	ovarian:	n/a
33	chr14:21924393-21924443	GM12891	blood:	n/a
34	chr14:21924393-21924443	U87	brain:	n/a
35	chr14:21924393-21924443	PANC-1	pancreas:	n/a
36	chr14:21924393-21924443	HCT-116	colon:	n/a
37	chr14:21924393-21924443	HAEpiC	amniotic membrane:	n/a
38	chr14:21924393-21924443	HEK293	kidney:	embryo
39	chr14:21924393-21924443	GM06990	blood:	n/a
40	chr14:21924393-21924443	SAEC	small airway:	n/a
41	chr14:21924393-21924443	A549	lung:	n/a
42	chr14:21924393-21924443	RPTEC	kidney:	n/a
43	chr14:21924393-21924443	GM19239	blood:	n/a
44	chr14:21924393-21924443	HEEpiC	esophagus:	n/a
45	chr14:21924393-21924443	AG09319	gingival:	n/a
46	chr14:21924393-21924443	SKMC	muscle:	n/a
47	chr14:21924393-21924443	LNCaP	prostate:	n/a
48	chr14:21924393-21924443	HCF	heart:	n/a
49	chr14:21924393-21924443	AG04450	lung:	fetal
50	chr14:21924393-21924443	ECC-1	luminal epithelium:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21876017..21878615-chr14:21922957..21924829,2	MCF-7	breast:
2	chr14:21924252..21925871-chr14:21972693..21974391,2	MCF-7	breast:
3	chr14:21851036..21853977-chr14:21924005..21926243,2	K562	blood:
4	chr14:21923260..21925455-chr14:21943748..21947334,4	K562	blood:
5	chr14:21923806..21924454-chr6:30584518..30585192,2	Hela-S3	cervix:
6	chr14:21896024..21898915-chr14:21922681..21926768,3	MCF-7	breast:
7	chr14:21903062..21910356-chr14:21920914..21926084,11	K562	blood:
8	chr14:21903199..21908176-chr14:21922150..21927422,17	MCF-7	breast:
9	chr14:21924055..21924661-chr7:44836014..44836637,2	Hela-S3	cervix:
10	chr14:21923967..21924515-chr17:72199493..72200481,2	HCT-116	colon:
11	chr14:21851720..21852643-chr14:21923813..21924616,2	Hela-S3	cervix:
12	chr14:21924214..21926252-chr14:21977009..21978995,2	K562	blood:
13	chr14:21895886..21898457-chr14:21923417..21926008,3	MCF-7	breast:
14	chr14:21923624..21924407-chr6:76311791..76312313,2	MCF-7	breast:
15	chr14:21922721..21925394-chr14:21943917..21947287,10	MCF-7	breast:
16	chr14:21850281..21853606-chr14:21922401..21926243,8	K562	blood:
17	chr14:21850843..21852612-chr14:21923284..21925387,2	MCF-7	breast:
18	chr14:21904171..21908174-chr14:21922677..21925847,6	K562	blood:
19	chr14:21902087..21907117-chr14:21919849..21925728,16	MCF-7	breast:
20	chr14:21922608..21930261-chr14:21941288..21947915,21	MCF-7	breast:
21	chr14:21923462..21925701-chr14:21977921..21979566,3	MCF-7	breast:
22	chr14:21923226..21926054-chr6:27860528..27862245,2	MCF-7	breast:
23	chr14:21899827..21901891-chr14:21923917..21926462,2	MCF-7	breast:
24	chr14:21921735..21926252-chr14:21977495..21980798,4	K562	blood:

No data

Variant related genes	Relation type
CHD8	TF binding region
CHD8	CpG island
ENSG00000204569	Chromatin interaction
ENSG00000112701	Chromatin interaction
ENSG00000129472	Chromatin interaction
ENSG00000260830	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000196262	Chromatin interaction
ENSG00000092201	Chromatin interaction
ENSG00000165819	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000100888	Chromatin interaction
ENSG00000263621	Chromatin interaction
ENSG00000172809	Chromatin interaction
ENSG00000092203	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11845999	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11846277	1.00[AMR][1000 genomes]
rs11846401	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11848144	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11848400	1.00[AMR][1000 genomes]
rs11852123	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105113	0.80[AFR][1000 genomes]
rs34725281	1.00[AMR][1000 genomes]
rs55884255	1.00[AMR][1000 genomes]
rs56074436	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56097784	1.00[AMR][1000 genomes]
rs56108731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56117003	1.00[AMR][1000 genomes]
rs56229026	1.00[AMR][1000 genomes]
rs58334761	1.00[AMR][1000 genomes]
rs59176394	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60690486	1.00[AMR][1000 genomes]
rs73579616	1.00[AMR][1000 genomes]
rs73579641	1.00[AMR][1000 genomes]
rs73579663	1.00[AMR][1000 genomes]
rs73579666	1.00[AMR][1000 genomes]
rs73579678	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73579686	0.88[AFR][1000 genomes]
rs73579690	0.88[AFR][1000 genomes]
rs73579699	0.86[AFR][1000 genomes]
rs74034927	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74034929	1.00[AMR][1000 genomes]
rs74034930	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv530011	chr14:21876973-21985341	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 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	chr14:21922000-21925000	Active TSS	GM12878-XiMat	blood
2	chr14:21922400-21925000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:21922400-21925200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr14:21922400-21925200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr14:21922600-21925000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:21922800-21925000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:21922800-21925000	Active TSS	K562	blood
8	chr14:21922800-21925000	Active TSS	NHLF	lung
9	chr14:21922800-21925200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:21922800-21925200	Active TSS	Fetal Intestine Large	intestine
11	chr14:21923000-21924800	Active TSS	Lung	lung
12	chr14:21923000-21925000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr14:21923000-21925000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:21923000-21925000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:21923000-21925000	Active TSS	Pancreas	Pancrea
16	chr14:21923000-21925000	Bivalent/Poised TSS	HepG2	liver
17	chr14:21923000-21925000	Active TSS	HMEC	breast
18	chr14:21923000-21925000	Active TSS	HSMMtube	muscle
19	chr14:21923000-21925200	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr14:21923000-21925200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr14:21923000-21925200	Active TSS	Fetal Intestine Small	intestine
22	chr14:21923200-21924600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:21923200-21924600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr14:21923200-21924800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:21923200-21924800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:21923200-21924800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:21923200-21925000	Active TSS	H1 Cell Line	embryonic stem cell
28	chr14:21923200-21925000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr14:21923200-21925000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:21923200-21925000	Active TSS	Ovary	ovary
31	chr14:21923200-21925000	Active TSS	NHDF-Ad	bronchial
32	chr14:21923200-21925200	Active TSS	A549	lung
33	chr14:21923400-21924600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:21923400-21924600	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr14:21923400-21924800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:21923400-21924800	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr14:21923400-21924800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:21923400-21924800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:21923400-21924800	Active TSS	Muscle Satellite Cultured Cells	--
40	chr14:21923400-21924800	Active TSS	Esophagus	oesophagus
41	chr14:21923400-21924800	Active TSS	Gastric	stomach
42	chr14:21923400-21925000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:21923400-21925000	Active TSS	Aorta	Aorta
44	chr14:21923400-21925000	Active TSS	Placenta Amnion	Placenta Amnion
45	chr14:21923400-21925000	Active TSS	Small Intestine	intestine
46	chr14:21923400-21925200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:21923400-21925200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:21923400-21925200	Active TSS	Fetal Muscle Trunk	muscle
49	chr14:21923400-21925400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:21923600-21924400	Active TSS	Fetal Brain Male	brain

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