Variant report

Variant	rs2274267
Chromosome Location	chr14:104029449-104029450
allele	C/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	chr14:104028182-104029766	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr14:104028363-104029756	GM19193	blood:	n/a	n/a
3	MAX	chr14:104028904-104029643	A549	lung:	n/a	n/a
4	SRF	chr14:104028705-104029508	ECC-1	luminal epithelium:	n/a	n/a
5	ELK1	chr14:104028849-104029813	Hela-S3	cervix:	n/a	n/a
6	HMGN3	chr14:104028491-104029637	K562	blood:	n/a	n/a
7	EP300	chr14:104029123-104029460	SK-N-SH_RA	brain:	n/a	chr14:104029123-104029139
8	POLR2A	chr14:104029203-104029719	U87	brain:	n/a	n/a
9	POLR2A	chr14:104028363-104029775	HepG2	liver:	n/a	n/a
10	ZNF143	chr14:104028727-104029549	GM12878	blood:	n/a	n/a
11	POLR2A	chr14:104029252-104029622	HepG2	liver:	n/a	n/a
12	GABPA	chr14:104029118-104029534	A549	lung:	n/a	n/a
13	NFIC	chr14:104029059-104029512	GM12878	blood:	n/a	n/a
14	ELF1	chr14:104028738-104029826	MCF-7	breast:	n/a	chr14:104029076-104029088 chr14:104029239-104029248 chr14:104029097-104029106
15	TAF1	chr14:104028177-104029827	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr14:104028311-104029626	NB4	blood:	n/a	n/a
17	SIX5	chr14:104028732-104029695	A549	lung:	n/a	n/a
18	EGR1	chr14:104028792-104029460	K562	blood:	n/a	n/a
19	NR3C1	chr14:104028807-104029505	A549	lung:	n/a	n/a
20	YY1	chr14:104028520-104029581	GM12878	blood:	n/a	chr14:104029236-104029245 chr14:104029027-104029038 chr14:104029239-104029248 chr14:104029234-104029248
21	SIN3AK20	chr14:104029091-104029594	A549	lung:	n/a	n/a
22	TAF1	chr14:104029147-104029486	H1-neurons	neurons:	n/a	n/a
23	HEY1	chr14:104029207-104029493	K562	blood:	n/a	n/a
24	SMC3	chr14:104029289-104029624	Hela-S3	cervix:	n/a	n/a
25	ELF1	chr14:104028722-104029655	HepG2	liver:	n/a	chr14:104029076-104029088 chr14:104029239-104029248 chr14:104029097-104029106
26	SIN3AK20	chr14:104028608-104029969	MCF-7	breast:	n/a	n/a
27	ELK1	chr14:104029362-104029560	K562	blood:	n/a	n/a
28	REST	chr14:104029262-104029641	A549	lung:	n/a	n/a
29	PAX5	chr14:104029002-104029455	GM12891	blood:	n/a	n/a
30	CREB1	chr14:104028691-104029617	K562	blood:	n/a	n/a
31	POLR2A	chr14:104028406-104029751	MCF-7	breast:	n/a	n/a
32	CREB1	chr14:104028735-104029520	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr14:104028038-104029632	H1-neurons	neurons:	n/a	n/a
34	ATF3	chr14:104028780-104029532	GM12878	blood:	n/a	chr14:104029234-104029243
35	POLR2A	chr14:104027813-104029763	HepG2	liver:	n/a	n/a
36	POLR2A	chr14:104028670-104029647	Gliobla	brain:	n/a	n/a
37	POLR2A	chr14:104027723-104029500	IMR90	lung:	n/a	n/a
38	POLR2A	chr14:104028220-104029493	GM12891	blood:	n/a	n/a
39	SP1	chr14:104028739-104029720	A549	lung:	n/a	chr14:104029034-104029044 chr14:104029033-104029045 chr14:104029106-104029116 chr14:104029034-104029044 chr14:104029035-104029044 chr14:104028787-104028799 chr14:104028789-104028798 chr14:104028788-104028797 chr14:104029106-104029116 chr14:104029033-104029045 chr14:104029034-104029043 chr14:104028789-104028798 chr14:104028783-104028796 chr14:104029034-104029043
40	IRF1	chr14:104028830-104029466	K562	blood:	n/a	chr14:104029031-104029045
41	ZBTB33	chr14:104028748-104029483	HCT-116	colon:	n/a	n/a
42	TAF1	chr14:104028560-104029734	ECC-1	luminal epithelium:	n/a	n/a
43	RFX5	chr14:104028739-104029954	Hela-S3	cervix:	n/a	n/a
44	ZBTB7A	chr14:104029033-104029568	K562	blood:	n/a	n/a
45	ELF1	chr14:104028541-104029648	K562	blood:	n/a	chr14:104029076-104029088 chr14:104029239-104029248 chr14:104029097-104029106
46	POLR2A	chr14:104028229-104029733	GM18951	blood:	n/a	n/a
47	E2F6	chr14:104028240-104029496	K562	blood:	n/a	chr14:104028917-104028928 chr14:104028673-104028688 chr14:104029236-104029245
48	ZBTB33	chr14:104028733-104029593	SK-N-SH	brain:	n/a	n/a
49	JUND	chr14:104028308-104029786	MCF-7	breast:	n/a	n/a
50	HEY1	chr14:104028676-104029624	HepG2	liver:	n/a	chr14:104029025-104029040 chr14:104029116-104029131 chr14:104029113-104029128 chr14:104029034-104029049

No.	Distal block	Cell Line	Cell type
1	chr14:104026845..104031617-chr14:104090112..104098528,12	MCF-7	breast:
2	chr14:104016689..104020988-chr14:104027518..104030448,6	MCF-7	breast:
3	chr14:103983696..103988397-chr14:104026059..104029809,6	K562	blood:
4	chr14:103992721..103998040-chr14:104027797..104030842,4	MCF-7	breast:
5	chr14:104026026..104030833-chr14:104180410..104184978,6	MCF-7	breast:
6	chr14:103799415..103801924-chr14:104027086..104029565,3	MCF-7	breast:
7	chr14:104026574..104032100-chr14:104033737..104038565,9	MCF-7	breast:
8	chr14:103985364..103989946-chr14:104026445..104030227,8	MCF-7	breast:
9	chr14:104027061..104029959-chr14:104033088..104037337,3	K562	blood:
10	chr14:104027886..104033252-chr14:104178637..104183670,7	MCF-7	breast:
11	chr14:104028570..104029503-chr9:113018763..113019759,2	Hela-S3	cervix:
12	chr14:104027275..104029645-chr9:131939860..131941591,2	MCF-7	breast:
13	chr14:103995545..103997122-chr14:104028296..104030375,2	K562	blood:
14	chr14:104026767..104030601-chr14:104092111..104097061,5	MCF-7	breast:

Variant related genes	Relation type
RNU4-68P	TF binding region
APOPT1	TF binding region
BAG5	TF binding region
ENSG00000260285	Chromatin interaction
ENSG00000100664	Chromatin interaction
ENSG00000188483	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000258851	Chromatin interaction
ENSG00000256053	Chromatin interaction
ENSG00000136810	Chromatin interaction
ENSG00000166166	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000201184	Chromatin interaction
ENSG00000269963	Chromatin interaction
ENSG00000166165	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10431750	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844466	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11851000	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11851616	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12887734	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12889403	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889721	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12890820	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892038	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12894729	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296482	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2403196	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2403197	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2896487	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34026011	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34186780	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34843146	0.80[ASN][1000 genomes]
rs34896432	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35026580	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35229468	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35496194	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35498576	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4525427	0.82[ASN][1000 genomes]
rs4906335	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4906336	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4906337	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4906338	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55751606	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57072546	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58033365	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60249782	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs67899457	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7140568	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71417868	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7148456	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8017628	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8017993	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv902303	chr14:103979953-104034746	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	esv1839595	chr14:103987140-104034746	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	esv3389476	chr14:104028349-104030447	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 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	chr14:104027400-104030600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr14:104027400-104030800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr14:104027400-104030800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr14:104027600-104030200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:104027600-104030200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:104027600-104030200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:104027600-104030400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr14:104027600-104030400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr14:104027600-104030400	Active TSS	Esophagus	oesophagus
10	chr14:104027600-104030600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:104027600-104030800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:104027600-104030800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr14:104027600-104030800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr14:104027600-104030800	Active TSS	NHLF	lung
15	chr14:104027800-104029600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:104027800-104029600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:104027800-104029600	Active TSS	HepG2	liver
18	chr14:104027800-104029800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:104027800-104029800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:104027800-104030000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:104027800-104030000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:104027800-104030000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:104027800-104030000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:104027800-104030200	Active TSS	Gastric	stomach
25	chr14:104027800-104030200	Active TSS	GM12878-XiMat	blood
26	chr14:104027800-104030200	Active TSS	Hela-S3	cervix
27	chr14:104027800-104030400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:104027800-104030400	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr14:104027800-104030400	Active TSS	Fetal Kidney	kidney
30	chr14:104027800-104030400	Active TSS	Ovary	ovary
31	chr14:104027800-104030400	Active TSS	HMEC	breast
32	chr14:104027800-104030600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr14:104027800-104030600	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr14:104027800-104030600	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr14:104027800-104030600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:104027800-104030600	Active TSS	A549	lung
37	chr14:104027800-104030600	Active TSS	HSMM	muscle
38	chr14:104027800-104030800	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr14:104028000-104029800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:104028000-104029800	Active TSS	Stomach Mucosa	stomach
41	chr14:104028000-104030200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:104028000-104030200	Active TSS	Fetal Intestine Large	intestine
43	chr14:104028000-104030200	Active TSS	Fetal Intestine Small	intestine
44	chr14:104028000-104030200	Active TSS	Lung	lung
45	chr14:104028000-104030200	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr14:104028000-104030200	Active TSS	NHEK	skin
47	chr14:104028000-104030400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:104028000-104030400	Active TSS	Fetal Lung	lung
49	chr14:104028000-104030600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr14:104028000-104030600	Active TSS	Psoas Muscle	Psoas

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