Variant report

Variant	rs175341
Chromosome Location	chr14:39639530-39639531
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:555)
CpG islands
(count:61)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:39639440-39639590	SK-N-SH_RA	brain:	n/a	n/a
2	FOXM1	chr14:39638716-39639843	GM12878	blood:	n/a	n/a
3	GABPA	chr14:39639043-39640053	A549	lung:	n/a	n/a
4	REST	chr14:39639392-39639755	SK-N-SH	brain:	n/a	n/a
5	TBL1XR1	chr14:39639310-39639712	K562	blood:	n/a	n/a
6	TBL1XR1	chr14:39639209-39639845	K562	blood:	n/a	n/a
7	BATF	chr14:39639039-39639705	GM12878	blood:	n/a	n/a
8	RCOR1	chr14:39638845-39639778	Hela-S3	cervix:	n/a	n/a
9	SP1	chr14:39639315-39639839	H1-hESC	embryonic stem cell:	n/a	n/a
10	RCOR1	chr14:39639423-39639758	K562	blood:	n/a	n/a
11	PAX5	chr14:39639308-39639764	GM12878	blood:	n/a	n/a
12	CHD2	chr14:39639062-39639840	HepG2	liver:	n/a	n/a
13	ZNF384	chr14:39639398-39640412	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:39638979-39639944	GM12891	blood:	n/a	n/a
15	GABPA	chr14:39638985-39639960	A549	lung:	n/a	n/a
16	ELK4	chr14:39639427-39639766	HEK293	kidney:	n/a	chr14:39639604-39639615
17	MYC	chr14:39639106-39640033	K562	blood:	n/a	n/a
18	POLR2A	chr14:39638256-39640608	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr14:39639023-39640027	PFSK-1	brain:	n/a	n/a
20	IRF4	chr14:39639040-39639826	GM12878	blood:	n/a	n/a
21	SIX5	chr14:39639228-39639886	A549	lung:	n/a	n/a
22	SRF	chr14:39638898-39639966	MCF-7	breast:	n/a	n/a
23	POLR2A	chr14:39638917-39639983	GM12891	blood:	n/a	n/a
24	TAF1	chr14:39639042-39639966	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr14:39638939-39640740	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr14:39639077-39639967	ECC-1	luminal epithelium:	n/a	n/a
27	USF1	chr14:39639140-39639883	A549	lung:	n/a	n/a
28	CTCF	chr14:39639520-39639670	NHDF-neo	bronchial:	n/a	n/a
29	FOXP2	chr14:39639374-39639738	SK-N-MC	brain:	n/a	n/a
30	SPI1	chr14:39639193-39639894	HL-60	blood:	n/a	n/a
31	GABPA	chr14:39639357-39639841	H1-hESC	embryonic stem cell:	n/a	n/a
32	YY1	chr14:39638931-39639936	A549	lung:	n/a	chr14:39639403-39639415
33	POLR2A	chr14:39639028-39640019	MCF-7	breast:	n/a	n/a
34	POLR2A	chr14:39638998-39639940	K562	blood:	n/a	n/a
35	POLR2A	chr14:39639216-39639984	PANC-1	pancreas:	n/a	n/a
36	ZNF143	chr14:39639300-39639829	H1-hESC	embryonic stem cell:	n/a	n/a
37	TAF7	chr14:39639231-39639971	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr14:39639199-39639953	SK-N-MC	brain:	n/a	n/a
39	POLR2A	chr14:39639197-39639920	GM10847	blood:	n/a	n/a
40	GTF2F1	chr14:39639356-39639906	H1-hESC	embryonic stem cell:	n/a	n/a
41	E2F6	chr14:39639245-39639954	A549	lung:	n/a	n/a
42	RELA	chr14:39638992-39639890	GM18505	blood:	n/a	n/a
43	YY1	chr14:39639105-39639837	SK-N-SH	brain:	n/a	chr14:39639403-39639415
44	POLR2A	chr14:39639000-39640031	K562	blood:	n/a	n/a
45	POLR2A	chr14:39638714-39639957	GM12878	blood:	n/a	n/a
46	POLR2A	chr14:39638749-39640613	GM12891	blood:	n/a	n/a
47	POLR2A	chr14:39639221-39639927	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr14:39638914-39640057	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr14:39639051-39640033	MCF-7	breast:	n/a	n/a
50	YY1	chr14:39639011-39639957	K562	blood:	n/a	chr14:39639403-39639415

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:39639503-39639553	SK-N-MC	brain:	n/a
2	chr14:39639503-39639553	AG09319	gingival:	n/a
3	chr14:39639503-39639553	NH-A	brain:	n/a
4	chr14:39639503-39639553	AG04450	lung:	fetal
5	chr14:39639503-39639553	HepG2	liver:	n/a
6	chr14:39639503-39639553	HCM	heart:	n/a
7	chr14:39639503-39639553	H1-hESC	embryonic stem cell:	embryo
8	chr14:39639503-39639553	PANC-1	pancreas:	n/a
9	chr14:39639503-39639553	BE2_C	brain:	n/a
10	chr14:39639503-39639553	HEK293	kidney:	embryo
11	chr14:39639503-39639553	T-47D	breast:	n/a
12	chr14:39639503-39639553	HRCEpiC	kidney:	n/a
13	chr14:39639503-39639553	NHBE	bronchial:	n/a
14	chr14:39639503-39639553	GM19239	blood:	n/a
15	chr14:39639503-39639553	PrEC	prostate:	n/a
16	chr14:39639503-39639553	GM12892	blood:	n/a
17	chr14:39639503-39639553	HAEpiC	amniotic membrane:	n/a
18	chr14:39639503-39639553	A549	lung:	n/a
19	chr14:39639503-39639553	AG09309	skin:	n/a
20	chr14:39639503-39639553	SKMC	muscle:	n/a
21	chr14:39639503-39639553	MCF10A-Er-Src	breast:	n/a
22	chr14:39639503-39639553	LNCaP	prostate:	n/a
23	chr14:39639503-39639553	BJ	skin:	n/a
24	chr14:39639503-39639553	HNPCEpiC	eye:	n/a
25	chr14:39639503-39639553	K562	blood:	n/a
26	chr14:39639503-39639553	HL-60	blood:	n/a
27	chr14:39639503-39639553	Hepatocyte	liver:	n/a
28	chr14:39639503-39639553	U87	brain:	n/a
29	chr14:39639503-39639553	NHDF-neo	bronchial:	n/a
30	chr14:39639503-39639553	Jurkat	blood:	n/a
31	chr14:39639503-39639553	ovcar-3	ovarian:	n/a
32	chr14:39639503-39639553	RPTEC	kidney:	n/a
33	chr14:39639503-39639553	HPAEpiC	pulmonary alveolar:	n/a
34	chr14:39639503-39639553	HCF	heart:	n/a
35	chr14:39639503-39639553	AG04449	skin:	fetal
36	chr14:39639503-39639553	AoSMC	blood vessel:	n/a
37	chr14:39639503-39639553	AG10803	skin:	n/a
38	chr14:39639503-39639553	IMR90	lung:	fetal
39	chr14:39639503-39639553	HMEC	breast:	n/a
40	chr14:39639503-39639553	SK-N-SH	brain:	n/a
41	chr14:39639503-39639553	HCPEpiC	choroid plexus:	n/a
42	chr14:39639503-39639553	CMK	blood:	n/a
43	chr14:39639503-39639553	HEEpiC	esophagus:	n/a
44	chr14:39639503-39639553	NB4	blood:	n/a
45	chr14:39639503-39639553	GM12891	blood:	n/a
46	chr14:39639503-39639553	GM12878	blood:	n/a
47	chr14:39639503-39639553	HUVEC	blood vessel:	n/a
48	chr14:39639503-39639553	GM06990	blood:	n/a
49	chr14:39639503-39639553	SAEC	small airway:	n/a
50	chr14:39639503-39639553	HRPEpiC	eye:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:39624043..39626785-chr14:39637503..39639794,2	K562	blood:
2	chr14:39576976..39580513-chr14:39638047..39641153,4	K562	blood:
3	chr14:39639099..39640007-chr14:74318606..74319313,2	HCT-116	colon:
4	chr14:39638891..39641141-chr14:39697742..39700523,2	MCF-7	breast:
5	chr14:39639208..39640074-chr5:43483705..43484415,2	Hela-S3	cervix:
6	chr14:39583285..39585580-chr14:39639274..39641168,2	K562	blood:
7	chr14:39639208..39640155-chr3:156877534..156878253,2	Hela-S3	cervix:
8	chr14:39602771..39604896-chr14:39637781..39640211,2	MCF-7	breast:
9	chr14:39638262..39639790-chr14:39854572..39857043,2	K562	blood:
10	chr14:39639117..39639619-chr17:57914996..57915934,2	Hela-S3	cervix:
11	chr14:39639478..39640144-chr21:33783884..33784485,2	HCT-116	colon:
12	chr14:39582622..39586619-chr14:39638047..39642701,6	MCF-7	breast:
13	chr14:39636108..39642775-chr14:39734196..39739360,12	MCF-7	breast:
14	chr14:39572251..39574864-chr14:39637876..39641106,3	MCF-7	breast:
15	chr14:39570654..39572608-chr14:39637696..39639686,2	K562	blood:
16	chr14:39638023..39641762-chr14:39900094..39905872,5	MCF-7	breast:
17	chr14:39560368..39562617-chr14:39637895..39640290,2	MCF-7	breast:
18	chr14:39570348..39574070-chr14:39637691..39640941,4	MCF-7	breast:

No data

Variant related genes	Relation type
PNN	TF binding region
TRAPPC6B	TF binding region
PNN	CpG island
TRAPPC6B	CpG island
ENSG00000150527	Chromatin interaction
ENSG00000163660	Chromatin interaction
ENSG00000100934	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000258591	Chromatin interaction
ENSG00000258653	Chromatin interaction
ENSG00000092208	Chromatin interaction
ENSG00000165355	Chromatin interaction
ENSG00000258651	Chromatin interaction
ENSG00000259100	Chromatin interaction
ENSG00000140043	Chromatin interaction
ENSG00000241984	Chromatin interaction
ENSG00000258941	Chromatin interaction
ENSG00000166979	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000150526	Chromatin interaction
ENSG00000249492	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10132034	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10132953	0.85[AMR][1000 genomes]
rs10149829	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11157046	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11157047	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11157048	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434607	0.93[AMR][1000 genomes]
rs12895329	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1950509	0.85[AMR][1000 genomes]
rs1956629	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964842	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2038357	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]
rs2082637	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2099410	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2180214	0.85[AMR][1000 genomes]
rs2180217	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2180792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252040	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415525	1.00[JPT][hapmap]
rs4290398	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4616209	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902419	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56163817	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6571889	0.85[AMR][1000 genomes]
rs6571890	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6571891	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6571894	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6571895	0.84[AMR][1000 genomes]
rs6571896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571897	0.85[ASN][1000 genomes]
rs6571904	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6571905	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7140561	1.00[CEU][hapmap]
rs7147760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154585	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs761804	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761806	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761807	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003194	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8003485	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003807	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007063	0.86[AMR][1000 genomes]
rs8010111	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014255	1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014677	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021225	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8022141	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9322993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671927	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv1813567	chr14:39632114-39642840	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 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	chr14:39636200-39640200	Active TSS	GM12878-XiMat	blood
2	chr14:39636800-39640600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:39637400-39640200	Active TSS	Ovary	ovary
4	chr14:39637400-39640200	Active TSS	K562	blood
5	chr14:39637400-39640600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:39637600-39640000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:39637600-39640200	Active TSS	HSMMtube	muscle
8	chr14:39637600-39640400	Active TSS	Aorta	Aorta
9	chr14:39637600-39640400	Active TSS	NHDF-Ad	bronchial
10	chr14:39637600-39640400	Active TSS	NHLF	lung
11	chr14:39637800-39640200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr14:39637800-39640200	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr14:39637800-39640200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:39637800-39640200	Active TSS	Fetal Brain Female	brain
15	chr14:39637800-39640400	Active TSS	Psoas Muscle	Psoas
16	chr14:39637800-39640400	Active TSS	Right Atrium	heart
17	chr14:39637800-39640600	Active TSS	Brain Anterior Caudate	brain
18	chr14:39638000-39640000	Active TSS	Colonic Mucosa	Colon
19	chr14:39638000-39640200	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr14:39638000-39640200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:39638000-39640200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:39638000-39640200	Active TSS	Right Ventricle	heart
23	chr14:39638000-39640400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:39638200-39640200	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr14:39638200-39640200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:39638200-39640200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:39638200-39640200	Active TSS	Muscle Satellite Cultured Cells	--
28	chr14:39638200-39640200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:39638200-39640200	Active TSS	Colon Smooth Muscle	Colon
30	chr14:39638200-39640200	Active TSS	Fetal Muscle Leg	muscle
31	chr14:39638200-39640200	Active TSS	HMEC	breast
32	chr14:39638200-39640400	Active TSS	Fetal Stomach	stomach
33	chr14:39638200-39640400	Active TSS	HSMM	muscle
34	chr14:39638400-39640000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:39638400-39640200	Active TSS	H1 Cell Line	embryonic stem cell
36	chr14:39638400-39640200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:39638400-39640200	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr14:39638400-39640200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:39638400-39640200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:39638400-39640200	Active TSS	Fetal Intestine Large	intestine
41	chr14:39638400-39640200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr14:39638400-39640200	Active TSS	Stomach Smooth Muscle	stomach
43	chr14:39638400-39640200	Active TSS	Hela-S3	cervix
44	chr14:39638400-39640200	Active TSS	NH-A	brain
45	chr14:39638400-39640200	Active TSS	Osteobl	bone
46	chr14:39638400-39640400	Active TSS	Brain Substantia Nigra	brain
47	chr14:39638400-39640400	Active TSS	Fetal Muscle Trunk	muscle
48	chr14:39638400-39640600	Active TSS	Brain Angular Gyrus	brain
49	chr14:39638600-39640000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:39638600-39640000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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