Variant report

Variant	rs3813421
Chromosome Location	chr14:65347239-65347240
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	HA-E2F1	chr14:65346862-65347586	MCF-7	breast:	n/a	chr14:65346946-65346958 chr14:65347034-65347041 chr14:65346872-65346881 chr14:65347034-65347041 chr14:65347338-65347347 chr14:65347033-65347045 chr14:65347171-65347181 chr14:65347034-65347041 chr14:65347237-65347246
2	TAF1	chr14:65347157-65347476	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:65346319-65347765	H1-neurons	neurons:	n/a	n/a
4	REST	chr14:65346792-65347687	H1-neurons	neurons:	n/a	chr14:65346883-65346896 chr14:65347260-65347273 chr14:65347170-65347180 chr14:65346880-65346893
5	MAX	chr14:65347082-65347589	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr14:65347197-65347386	K562	blood:	n/a	n/a
7	TBL1XR1	chr14:65347171-65347383	K562	blood:	n/a	n/a
8	CTCF	chr14:65347215-65347253	GM10266	blood:	n/a	n/a
9	POLR2A	chr14:65347178-65347515	K562	blood:	n/a	n/a
10	E2F4	chr14:65346618-65347532	K562	blood:	n/a	chr14:65346946-65346958 chr14:65347034-65347041 chr14:65347033-65347041 chr14:65346872-65346881 chr14:65347034-65347041 chr14:65347338-65347347 chr14:65347033-65347045 chr14:65346769-65346779 chr14:65347171-65347181 chr14:65347034-65347041 chr14:65347237-65347246
11	HEY1	chr14:65347147-65347477	K562	blood:	n/a	n/a
12	RCOR1	chr14:65345983-65347702	K562	blood:	n/a	n/a
13	CTCF	chr14:65347220-65347370	HRPEpiC	eye:	n/a	chr14:65347305-65347312
14	SMC3	chr14:65347073-65347273	K562	blood:	n/a	chr14:65347234-65347244
15	TEAD4	chr14:65347196-65347538	K562	blood:	n/a	n/a
16	MXI1	chr14:65347237-65347359	K562	blood:	n/a	n/a
17	MAX	chr14:65346509-65347720	MCF-7	breast:	n/a	n/a
18	GATA1	chr14:65346105-65348005	PBDE	blood:	n/a	chr14:65346999-65347007 chr14:65347950-65347960
19	POLR2A	chr14:65343221-65348246	PBDE	blood:	n/a	n/a
20	POLR2A	chr14:65346950-65347503	SK-N-MC	brain:	n/a	n/a
21	UBTF	chr14:65347098-65347487	K562	blood:	n/a	n/a
22	MAZ	chr14:65346709-65347344	GM12878	blood:	n/a	n/a
23	HMGN3	chr14:65345858-65347744	K562	blood:	n/a	n/a
24	CTCF	chr14:65347160-65347310	WERI-Rb-1	eye:	n/a	n/a
25	MAZ	chr14:65345829-65347665	K562	blood:	n/a	n/a
26	TAF1	chr14:65347127-65347435	K562	blood:	n/a	n/a
27	TAF1	chr14:65347101-65347617	H1-hESC	embryonic stem cell:	n/a	n/a
28	GABPA	chr14:65347178-65347504	K562	blood:	n/a	n/a
29	HDAC2	chr14:65346460-65347671	MCF-7	breast:	n/a	chr14:65347601-65347609
30	MAX	chr14:65347212-65347479	K562	blood:	n/a	n/a
31	POLR2A	chr14:65347022-65347628	H1-hESC	embryonic stem cell:	n/a	n/a
32	GABPA	chr14:65347166-65347476	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr14:65347144-65347442	H1-hESC	embryonic stem cell:	n/a	n/a
34	SIN3A	chr14:65346663-65347730	H1-hESC	embryonic stem cell:	n/a	chr14:65346763-65346776 chr14:65346880-65346893
35	POLR2A	chr14:65346480-65347751	H1-neurons	neurons:	n/a	n/a
36	CTCF	chr14:65347200-65347350	AG04449	skin:	n/a	chr14:65347305-65347312
37	EP300	chr14:65347160-65347559	K562	blood:	n/a	n/a
38	MAX	chr14:65346590-65347327	ECC-1	luminal epithelium:	n/a	n/a
39	JUND	chr14:65346588-65347445	K562	blood:	n/a	chr14:65346803-65346812 chr14:65346873-65346882
40	STAT5A	chr14:65347085-65347525	K562	blood:	n/a	n/a
41	POLR2A	chr14:65347102-65347470	ECC-1	luminal epithelium:	n/a	n/a
42	UBTF	chr14:65345919-65347318	K562	blood:	n/a	n/a
43	ZBTB7A	chr14:65346348-65347376	ECC-1	luminal epithelium:	n/a	chr14:65346408-65346417
44	YY1	chr14:65347070-65347509	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr14:65346452-65347600	K562	blood:	n/a	n/a
46	TEAD4	chr14:65347150-65347545	K562	blood:	n/a	n/a
47	CTCF	chr14:65347200-65347350	SK-N-SH_RA	brain:	n/a	chr14:65347305-65347312
48	CTCF	chr14:65347180-65347330	GM12873	blood:	n/a	chr14:65347305-65347312
49	POLR2A	chr14:65346374-65347512	K562	blood:	n/a	n/a
50	E2F4	chr14:65346881-65347760	MCF10A-Er-Src	breast:	n/a	chr14:65346946-65346958 chr14:65347034-65347041 chr14:65347033-65347041 chr14:65347034-65347041 chr14:65347338-65347347 chr14:65347033-65347045 chr14:65347171-65347181 chr14:65347034-65347041 chr14:65347237-65347246

No.	Distal block	Cell Line	Cell type
1	chr14:65346776..65348701-chr14:65353935..65356642,2	K562	blood:
2	chr14:65346776..65351606-chr14:65355142..65358604,5	K562	blood:
3	chr14:65347011..65349276-chr14:65350145..65352997,3	MCF-7	breast:
4	chr14:64971440..64973382-chr14:65345698..65348415,2	MCF-7	breast:
5	chr14:65346800..65348898-chr14:65351625..65354536,2	K562	blood:

Variant related genes	Relation type
SPTB	TF binding region
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1467569	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1467570	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1467571	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1467573	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17102320	0.84[ASN][1000 genomes]
rs1951490	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1951491	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1951492	0.93[ASN][1000 genomes]
rs1957427	0.83[ASN][1000 genomes]
rs1957428	0.89[ASN][1000 genomes]
rs1957429	0.89[ASN][1000 genomes]
rs1957431	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1957432	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1957434	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1957435	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1957436	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1998333	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs28370916	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2884308	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3813422	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3813423	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4899150	0.85[ASN][1000 genomes]
rs4902327	0.88[ASN][1000 genomes]
rs59876171	0.84[ASN][1000 genomes]
rs60979440	0.85[ASN][1000 genomes]
rs6573583	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7141985	0.88[ASN][1000 genomes]
rs7143661	0.84[ASN][1000 genomes]
rs8008745	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs8009510	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs8009996	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs8013772	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9783609	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv516238	chr14:65327288-65358576	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3693169	chr14:65344400-65381068	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3326676	chr14:65345624-65348172	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65345000-65348000	Active TSS	Brain Anterior Caudate	brain
2	chr14:65345200-65347400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:65345200-65348200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr14:65345400-65347800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:65345400-65347800	Active TSS	Right Atrium	heart
6	chr14:65345600-65347600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr14:65345600-65347800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:65345600-65347800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:65345600-65347800	Active TSS	Brain Hippocampus Middle	brain
10	chr14:65345600-65347800	Active TSS	Psoas Muscle	Psoas
11	chr14:65345600-65348000	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr14:65345800-65347400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr14:65345800-65347400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
14	chr14:65345800-65347600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr14:65345800-65347600	Active TSS	Brain Substantia Nigra	brain
16	chr14:65345800-65347800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr14:65345800-65347800	Active TSS	Right Ventricle	heart
18	chr14:65345800-65348000	Active TSS	Brain Angular Gyrus	brain
19	chr14:65345800-65348200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr14:65346000-65347400	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr14:65346000-65347400	Bivalent/Poised TSS	Esophagus	oesophagus
22	chr14:65346000-65347400	Active TSS	Fetal Kidney	kidney
23	chr14:65346000-65347400	Active TSS	Gastric	stomach
24	chr14:65346000-65347600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr14:65346000-65347600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:65346000-65347600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:65346000-65347600	Active TSS	K562	blood
28	chr14:65346000-65347800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:65346000-65347800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
30	chr14:65346000-65347800	Active TSS	Aorta	Aorta
31	chr14:65346000-65348000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:65346000-65348000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:65346000-65348000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr14:65346000-65348000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:65346200-65347400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:65346200-65347400	Active TSS	H9 Cell Line	embryonic stem cell
37	chr14:65346200-65347400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:65346200-65347400	Active TSS	Primary T cells from cord blood	blood
39	chr14:65346200-65347400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr14:65346200-65347400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr14:65346200-65347400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:65346200-65347400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
43	chr14:65346200-65347400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
44	chr14:65346200-65347400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
45	chr14:65346200-65347400	Active TSS	Pancreas	Pancrea
46	chr14:65346200-65347400	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr14:65346200-65347400	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr14:65346200-65347400	Active TSS	Rectal Smooth Muscle	rectum
49	chr14:65346200-65347400	Bivalent/Poised TSS	Small Intestine	intestine
50	chr14:65346200-65347400	Bivalent/Poised TSS	HepG2	liver

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