Variant report

Variant	rs2038357
Chromosome Location	chr14:39573063-39573064
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	EP300	chr14:39571537-39573189	HepG2	liver:	n/a	chr14:39571795-39571809 chr14:39572733-39572746
2	MYBL2	chr14:39571279-39573448	HepG2	liver:	n/a	n/a
3	ELF1	chr14:39572211-39573113	HepG2	liver:	n/a	chr14:39572383-39572395 chr14:39572424-39572436 chr14:39572633-39572644
4	POLR2A	chr14:39571840-39573151	ProgFib	skin:	n/a	n/a
5	CREB1	chr14:39571360-39573159	HepG2	liver:	n/a	chr14:39572433-39572446
6	HDAC2	chr14:39571348-39573194	HepG2	liver:	n/a	chr14:39571485-39571499 chr14:39573138-39573152 chr14:39571493-39571507
7	HEY1	chr14:39571434-39573445	HepG2	liver:	n/a	n/a
8	TEAD4	chr14:39571287-39573436	HepG2	liver:	n/a	n/a
9	MAFK	chr14:39572326-39573324	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:39571856-39573071	GM18505	blood:	n/a	n/a
11	MTA3	chr14:39572038-39573282	GM12878	blood:	n/a	n/a
12	MAFK	chr14:39573010-39573196	K562	blood:	n/a	n/a
13	JUND	chr14:39573043-39573129	K562	blood:	n/a	n/a
14	MAFF	chr14:39572303-39573274	HepG2	liver:	n/a	n/a
15	MYBL2	chr14:39570718-39573407	HepG2	liver:	n/a	n/a
16	NFIC	chr14:39571324-39573375	HepG2	liver:	n/a	n/a
17	MAZ	chr14:39571533-39573116	HepG2	liver:	n/a	n/a
18	ELF1	chr14:39571600-39573167	HepG2	liver:	n/a	chr14:39572199-39572208 chr14:39572161-39572173 chr14:39572383-39572395 chr14:39572424-39572436 chr14:39572633-39572644
19	MAFF	chr14:39572847-39573217	K562	blood:	n/a	n/a
20	MAZ	chr14:39571354-39573460	IMR90	lung:	n/a	n/a
21	MBD4	chr14:39571281-39573292	HepG2	liver:	n/a	n/a
22	SIN3AK20	chr14:39571482-39573145	MCF-7	breast:	n/a	n/a
23	POLR2A	chr14:39571364-39573446	HepG2	liver:	n/a	n/a
24	POLR2A	chr14:39572183-39573443	HepG2	liver:	n/a	n/a
25	MYC	chr14:39572155-39573121	K562	blood:	n/a	n/a
26	SP1	chr14:39572151-39573178	A549	lung:	n/a	chr14:39572375-39572387 chr14:39572209-39572218 chr14:39572376-39572385 chr14:39573078-39573087 chr14:39572376-39572386 chr14:39573077-39573087 chr14:39572210-39572219 chr14:39572375-39572387 chr14:39572377-39572386 chr14:39572470-39572484 chr14:39572208-39572220 chr14:39572184-39572198 chr14:39572376-39572385 chr14:39572664-39572674
27	HCFC1	chr14:39571467-39573294	Hela-S3	cervix:	n/a	n/a
28	FOXA1	chr14:39571501-39573256	HepG2	liver:	n/a	n/a
29	PML	chr14:39571996-39573189	GM12878	blood:	n/a	n/a
30	POLR2A	chr14:39571528-39573398	GM12891	blood:	n/a	n/a
31	POLR2A	chr14:39571443-39573390	H1-hESC	embryonic stem cell:	n/a	n/a
32	TCF12	chr14:39571530-39573226	A549	lung:	n/a	chr14:39572020-39572030
33	MAFK	chr14:39572442-39573309	IMR90	lung:	n/a	n/a
34	POLR2A	chr14:39571942-39573143	GM18526	blood:	n/a	n/a
35	MAFK	chr14:39572317-39573254	Hela-S3	cervix:	n/a	n/a
36	REST	chr14:39571572-39573126	H1-neurons	neurons:	n/a	chr14:39572340-39572353 chr14:39572138-39572151 chr14:39572218-39572228 chr14:39572673-39572686
37	ARID3A	chr14:39571463-39573232	HepG2	liver:	n/a	n/a
38	GABPA	chr14:39572085-39573129	MCF-7	breast:	n/a	chr14:39572559-39572568 chr14:39572485-39572499
39	POLR2A	chr14:39571526-39573112	HepG2	liver:	n/a	n/a
40	POLR2A	chr14:39571679-39573217	GM12878	blood:	n/a	n/a
41	MBD4	chr14:39571325-39573324	HepG2	liver:	n/a	n/a
42	POLR2A	chr14:39571075-39574433	HepG2	liver:	n/a	n/a
43	NFIC	chr14:39571378-39573322	HepG2	liver:	n/a	n/a
44	POLR2A	chr14:39571837-39573102	Hela-S3	cervix:	n/a	n/a
45	WRNIP1	chr14:39572581-39573093	GM12878	blood:	n/a	n/a
46	PML	chr14:39572077-39573111	MCF-7	breast:	n/a	n/a
47	HEY1	chr14:39571381-39573400	HepG2	liver:	n/a	n/a
48	MXI1	chr14:39571544-39573129	HepG2	liver:	n/a	n/a
49	POLR2A	chr14:39571511-39573411	IMR90	lung:	n/a	n/a
50	POLR2A	chr14:39571541-39573375	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:39572245..39573793-chr14:39838003..39840919,2	MCF-7	breast:
2	chr14:39570644..39573336-chr14:39733309..39737125,4	MCF-7	breast:
3	chr14:39572117..39574614-chr14:39901062..39903055,2	MCF-7	breast:
4	chr12:31012012..31014998-chr14:39572460..39574108,2	MCF-7	breast:
5	chr14:39570348..39574070-chr14:39637691..39640941,4	MCF-7	breast:
6	chr14:39571162..39573957-chr14:39700069..39703541,3	MCF-7	breast:
7	chr14:39572251..39574864-chr14:39637876..39641106,3	MCF-7	breast:
8	chr14:39569997..39574883-chr14:39575393..39578347,7	MCF-7	breast:
9	chr14:39572264..39573816-chr14:39900834..39903460,2	MCF-7	breast:
10	chr14:39570753..39574803-chr14:39575206..39579488,6	K562	blood:
11	chr14:39570993..39573887-chr14:39839322..39841759,2	MCF-7	breast:
12	chr14:39572488..39573108-chr14:39583111..39583768,2	HCT-116	colon:
13	chr14:39571044..39574449-chr14:39575206..39581914,9	K562	blood:
14	chr14:39572252..39573123-chr7:12250595..12251375,2	Hela-S3	cervix:
15	chr14:39572308..39574521-chr14:39576459..39578520,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258591	TF binding region
SEC23A	TF binding region
ENSG00000100934	Chromatin interaction
ENSG00000150527	Chromatin interaction
ENSG00000150526	Chromatin interaction
ENSG00000258118	Chromatin interaction
ENSG00000258941	Chromatin interaction
ENSG00000271424	Chromatin interaction
ENSG00000182400	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000106460	Chromatin interaction
ENSG00000092208	Chromatin interaction
ENSG00000258591	Chromatin interaction
ENSG00000165355	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10130959	0.93[TSI][hapmap]
rs10132034	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10132953	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10148762	0.93[TSI][hapmap]
rs10149829	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11157046	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11157047	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11157048	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12434607	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12895329	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs175341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1950509	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1955917	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1956629	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1964842	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2064959	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2082637	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2180214	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2180217	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2180792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2252040	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2415525	1.00[ASW][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap]
rs2415531	0.83[EUR][1000 genomes]
rs3899404	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4290398	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4616209	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4899125	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4899126	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4899139	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4899140	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4902294	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4902402	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902419	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56163817	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6571888	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6571889	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6571890	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6571891	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6571894	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6571895	0.95[AMR][1000 genomes]
rs6571896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6571897	1.00[CHD][hapmap]
rs7140561	1.00[CEU][hapmap]
rs7147760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7154585	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7157204	0.84[AMR][1000 genomes]
rs761804	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs761806	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs761807	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8003194	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8003485	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8003807	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8010111	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8011855	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8012178	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8014255	1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8014677	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8021225	0.84[ASN][1000 genomes]
rs8022141	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9322993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9671927	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs970623	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs975591	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 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	chr14:39569600-39573400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:39570400-39573200	Active TSS	Fetal Intestine Large	intestine
3	chr14:39570400-39573400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:39570400-39573400	Active TSS	NH-A	brain
5	chr14:39570600-39573400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:39570800-39573400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:39570800-39573400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr14:39570800-39573400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr14:39571000-39573200	Active TSS	Muscle Satellite Cultured Cells	--
10	chr14:39571000-39573200	Active TSS	Aorta	Aorta
11	chr14:39571000-39573200	Active TSS	Duodenum Mucosa	Duodenum
12	chr14:39571000-39573200	Active TSS	A549	lung
13	chr14:39571000-39573200	Active TSS	HSMM	muscle
14	chr14:39571000-39573400	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr14:39571000-39573400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:39571000-39573400	Active TSS	Right Atrium	heart
17	chr14:39571000-39573600	Active TSS	NHLF	lung
18	chr14:39571200-39573200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:39571200-39573200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr14:39571200-39573200	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr14:39571200-39573200	Active TSS	Fetal Intestine Small	intestine
22	chr14:39571200-39573200	Active TSS	Stomach Smooth Muscle	stomach
23	chr14:39571200-39573400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:39571200-39573400	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr14:39571200-39573400	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr14:39571200-39573400	Active TSS	Colonic Mucosa	Colon
27	chr14:39571200-39573400	Active TSS	Right Ventricle	heart
28	chr14:39571200-39573600	Active TSS	NHDF-Ad	bronchial
29	chr14:39571400-39573200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:39571400-39573200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:39571400-39573200	Active TSS	Fetal Kidney	kidney
32	chr14:39571400-39573200	Active TSS	Placenta Amnion	Placenta Amnion
33	chr14:39571400-39573400	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr14:39571400-39573400	Active TSS	H1 Cell Line	embryonic stem cell
35	chr14:39571400-39573400	Active TSS	H9 Cell Line	embryonic stem cell
36	chr14:39571400-39573400	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr14:39571400-39573400	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr14:39571400-39573400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:39571400-39573400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr14:39571400-39573400	Active TSS	Psoas Muscle	Psoas
41	chr14:39571400-39573600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:39571400-39573600	Active TSS	GM12878-XiMat	blood
43	chr14:39571400-39573600	Active TSS	NHEK	skin
44	chr14:39571600-39573200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:39571600-39573200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:39571600-39573200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr14:39571600-39573200	Active TSS	Esophagus	oesophagus
48	chr14:39571600-39573200	Active TSS	Fetal Muscle Trunk	muscle
49	chr14:39571600-39573200	Active TSS	Left Ventricle	heart
50	chr14:39571600-39573200	Active TSS	Lung	lung

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