Variant report

Variant	rs11622403
Chromosome Location	chr14:31677321-31677322
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:565)
CpG islands
(count:61)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:565 , 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	chr14:31677258-31677356	GM10266	blood:	n/a	n/a
2	POU2F2	chr14:31676499-31677844	GM12878	blood:	n/a	n/a
3	SIN3A	chr14:31676491-31677802	GM12878	blood:	n/a	chr14:31677552-31677565
4	MAX	chr14:31675757-31678710	HepG2	liver:	n/a	chr14:31677129-31677139
5	CEBPD	chr14:31676472-31677648	HepG2	liver:	n/a	n/a
6	JUND	chr14:31676341-31677688	HepG2	liver:	n/a	chr14:31676569-31676578
7	POLR2A	chr14:31675837-31677971	GM12878	blood:	n/a	n/a
8	MYC	chr14:31676274-31677857	K562	blood:	n/a	chr14:31677129-31677139
9	MAX	chr14:31676515-31677546	H1-hESC	embryonic stem cell:	n/a	chr14:31677129-31677139
10	POLR2A	chr14:31676038-31677698	K562	blood:	n/a	n/a
11	YY1	chr14:31676530-31677590	ECC-1	luminal epithelium:	n/a	chr14:31677125-31677136 chr14:31676991-31677000 chr14:31677032-31677052 chr14:31677125-31677134 chr14:31676929-31676940 chr14:31677128-31677137
12	POLR2A	chr14:31676321-31677821	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr14:31676898-31677428	GM19239	blood:	n/a	n/a
14	POLR2A	chr14:31676379-31677719	ProgFib	skin:	n/a	n/a
15	POLR2A	chr14:31675829-31677962	GM12891	blood:	n/a	n/a
16	E2F1	chr14:31676566-31677587	Hela-S3	cervix:	n/a	chr14:31677128-31677137
17	EP300	chr14:31676850-31677505	T-47D	breast:	n/a	n/a
18	USF1	chr14:31676911-31677565	A549	lung:	n/a	n/a
19	TAF1	chr14:31675943-31677690	HepG2	liver:	n/a	n/a
20	CTCF	chr14:31677240-31677390	NHDF-neo	bronchial:	n/a	n/a
21	CTCF	chr14:31677320-31677470	HRE	kidney:	n/a	n/a
22	POLR2A	chr14:31676473-31677824	K562	blood:	n/a	n/a
23	EP300	chr14:31676747-31677650	T-47D	breast:	n/a	chr14:31676797-31676813
24	EBF1	chr14:31676820-31677726	GM12878	blood:	n/a	n/a
25	CHD1	chr14:31675282-31678175	GM12878	blood:	n/a	n/a
26	CTCF	chr14:31676826-31677487	MCF-7	breast:	n/a	n/a
27	CTCF	chr14:31676891-31677399	MCF-7	breast:	n/a	n/a
28	SP1	chr14:31676464-31677665	A549	lung:	n/a	chr14:31676930-31676944 chr14:31676928-31676940 chr14:31676929-31676938 chr14:31676578-31676591 chr14:31677107-31677116 chr14:31676925-31676939
29	POLR2A	chr14:31674875-31678653	HepG2	liver:	n/a	n/a
30	USF2	chr14:31677225-31677652	HepG2	liver:	n/a	n/a
31	GABPA	chr14:31677253-31677622	K562	blood:	n/a	n/a
32	POLR2A	chr14:31676605-31677685	K562	blood:	n/a	n/a
33	TAL1	chr14:31676835-31677699	K562	blood:	n/a	n/a
34	YY1	chr14:31676441-31677786	GM12878	blood:	n/a	chr14:31677125-31677136 chr14:31676991-31677000 chr14:31677032-31677052 chr14:31677125-31677134 chr14:31676929-31676940 chr14:31677128-31677137
35	CTCF	chr14:31676354-31678016	A549	lung:	n/a	chr14:31676800-31676813
36	MAFK	chr14:31676961-31677711	HepG2	liver:	n/a	n/a
37	POLR2A	chr14:31676011-31678048	Hela-S3	cervix:	n/a	n/a
38	EP300	chr14:31676485-31677903	GM12878	blood:	n/a	chr14:31677752-31677766 chr14:31676797-31676813 chr14:31676528-31676544
39	TEAD4	chr14:31676892-31677549	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr14:31676643-31677531	K562	blood:	n/a	n/a
41	HDAC2	chr14:31676375-31677871	MCF-7	breast:	n/a	n/a
42	EBF1	chr14:31676698-31677888	GM12878	blood:	n/a	n/a
43	ELF1	chr14:31676516-31677635	HepG2	liver:	n/a	chr14:31676991-31677000 chr14:31677130-31677142 chr14:31677380-31677393 chr14:31676982-31676994
44	POU2F2	chr14:31676629-31677900	GM12891	blood:	n/a	n/a
45	SMC3	chr14:31676556-31677868	Hela-S3	cervix:	n/a	n/a
46	RAD21	chr14:31676749-31677653	ECC-1	luminal epithelium:	n/a	chr14:31676970-31676983
47	TBL1XR1	chr14:31676544-31677972	GM12878	blood:	n/a	n/a
48	CTCF	chr14:31676881-31677450	Fibrobl	skin:	n/a	n/a
49	E2F4	chr14:31676672-31677383	K562	blood:	n/a	chr14:31677128-31677137
50	TBP	chr14:31676490-31677973	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:31677288-31677338	A549	lung:	n/a
2	chr14:31677288-31677338	MCF10A-Er-Src	breast:	n/a
3	chr14:31677288-31677338	HPAEpiC	pulmonary alveolar:	n/a
4	chr14:31677288-31677338	Jurkat	blood:	n/a
5	chr14:31677288-31677338	GM12891	blood:	n/a
6	chr14:31677288-31677338	GM19239	blood:	n/a
7	chr14:31677288-31677338	PFSK-1	brain:	n/a
8	chr14:31677288-31677338	HCM	heart:	n/a
9	chr14:31677288-31677338	T-47D	breast:	n/a
10	chr14:31677288-31677338	Hela-S3	cervix:	n/a
11	chr14:31677288-31677338	AG10803	skin:	n/a
12	chr14:31677288-31677338	LNCaP	prostate:	n/a
13	chr14:31677288-31677338	Caco-2	colon:	n/a
14	chr14:31677288-31677338	ProgFib	skin:	n/a
15	chr14:31677288-31677338	AG04449	skin:	fetal
16	chr14:31677288-31677338	HEEpiC	esophagus:	n/a
17	chr14:31677288-31677338	HCF	heart:	n/a
18	chr14:31677288-31677338	NHBE	bronchial:	n/a
19	chr14:31677288-31677338	PrEC	prostate:	n/a
20	chr14:31677288-31677338	ECC-1	luminal epithelium:	n/a
21	chr14:31677288-31677338	HAEpiC	amniotic membrane:	n/a
22	chr14:31677288-31677338	HNPCEpiC	eye:	n/a
23	chr14:31677288-31677338	HIPEpiC	eye:	n/a
24	chr14:31677288-31677338	BJ	skin:	n/a
25	chr14:31677288-31677338	CMK	blood:	n/a
26	chr14:31677288-31677338	AoSMC	blood vessel:	n/a
27	chr14:31677288-31677338	NB4	blood:	n/a
28	chr14:31677288-31677338	HepG2	liver:	n/a
29	chr14:31677288-31677338	HEK293	kidney:	embryo
30	chr14:31677288-31677338	HCT-116	colon:	n/a
31	chr14:31677288-31677338	U87	brain:	n/a
32	chr14:31677288-31677338	HCPEpiC	choroid plexus:	n/a
33	chr14:31677288-31677338	AG09309	skin:	n/a
34	chr14:31677288-31677338	HMEC	breast:	n/a
35	chr14:31677288-31677338	SKMC	muscle:	n/a
36	chr14:31677288-31677338	HL-60	blood:	n/a
37	chr14:31677288-31677338	SK-N-SH	brain:	n/a
38	chr14:31677288-31677338	RPTEC	kidney:	n/a
39	chr14:31677288-31677338	NT2-D1	testis:	n/a
40	chr14:31677288-31677338	MCF-7	breast:	n/a
41	chr14:31677288-31677338	HRPEpiC	eye:	n/a
42	chr14:31677288-31677338	HUVEC	blood vessel:	n/a
43	chr14:31677288-31677338	BE2_C	brain:	n/a
44	chr14:31677288-31677338	IMR90	lung:	fetal
45	chr14:31677288-31677338	NHDF-neo	bronchial:	n/a
46	chr14:31677288-31677338	PANC-1	pancreas:	n/a
47	chr14:31677288-31677338	SK-N-MC	brain:	n/a
48	chr14:31677288-31677338	SK-N-SH_RA	brain:	n/a
49	chr14:31677288-31677338	AG04450	lung:	fetal
50	chr14:31677288-31677338	GM06990	blood:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:31677211..31678076-chr4:156681705..156682534,2	MCF-7	breast:
2	chr14:31675418..31678639-chr14:31811864..31816181,5	MCF-7	breast:
3	chr14:31595755..31597635-chr14:31675471..31677370,2	MCF-7	breast:
4	chr14:31677123..31678687-chr14:31776671..31778228,2	MCF-7	breast:
5	chr14:31676894..31677715-chr14:103851204..103851762,2	NB4	blood:
6	chr14:31676274..31678860-chr14:31889133..31891124,4	MCF-7	breast:
7	chr14:31676908..31677885-chr20:25604560..25605123,2	Hela-S3	cervix:
8	chr14:31634801..31637457-chr14:31677237..31679134,2	K562	blood:
9	chr14:31675912..31678861-chr14:31887661..31889789,2	K562	blood:
10	chr14:31677147..31678003-chr2:85765862..85766503,2	NB4	blood:
11	chr14:31674459..31678432-chr14:31805100..31811566,8	MCF-7	breast:
12	chr14:31676795..31677350-chr16:21610177..21611094,2	Hela-S3	cervix:
13	chr14:31677147..31677806-chr7:77167282..77168042,2	NB4	blood:
14	chr14:31677046..31680336-chr14:31784092..31787188,3	K562	blood:
15	chr14:31676519..31677499-chr14:31926219..31927033,2	HCT-116	colon:
16	chr14:31677097..31678008-chr20:30194510..30195209,2	Hela-S3	cervix:
17	chr14:31677046..31680336-chr14:31784092..31788238,4	K562	blood:
18	chr14:31675912..31678861-chr14:31887650..31889789,3	K562	blood:
19	chr14:31588557..31591164-chr14:31676122..31677690,2	MCF-7	breast:
20	chr12:117175432..117176132-chr14:31677141..31677685,2	NB4	blood:
21	chr14:31493616..31495498-chr14:31675892..31677511,2	K562	blood:
22	chr14:31677297..31678964-chr14:31721572..31723567,2	K562	blood:
23	chr14:31676195..31678341-chr2:204101427..204103984,2	MCF-7	breast:

No data

Variant related genes	Relation type
HECTD1	TF binding region
HECTD1	CpG island
ENSG00000127947	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000197006	Chromatin interaction
ENSG00000100478	Chromatin interaction
ENSG00000203546	Chromatin interaction
ENSG00000250365	Chromatin interaction
ENSG00000111412	Chromatin interaction
ENSG00000119004	Chromatin interaction
ENSG00000213742	Chromatin interaction
ENSG00000092148	Chromatin interaction
ENSG00000129493	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000170191	Chromatin interaction
ENSG00000075413	Chromatin interaction
ENSG00000129480	Chromatin interaction
ENSG00000135119	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11620816	0.94[EUR][1000 genomes]
rs11624437	0.85[CEU][hapmap]
rs11625570	0.92[CEU][hapmap];0.86[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs11625798	0.96[EUR][1000 genomes]
rs11626343	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11845860	0.94[EUR][1000 genomes]
rs11848094	0.90[EUR][1000 genomes]
rs11848563	0.94[EUR][1000 genomes]
rs17097688	0.85[CEU][hapmap]
rs17097735	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs17097741	0.85[CEU][hapmap];0.91[EUR][1000 genomes]
rs17097743	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs34039100	0.83[EUR][1000 genomes]
rs34684806	0.96[EUR][1000 genomes]
rs34745649	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3954287	0.90[EUR][1000 genomes]
rs45610935	0.84[EUR][1000 genomes]
rs56168081	0.91[EUR][1000 genomes]
rs56346233	0.91[EUR][1000 genomes]
rs57000706	0.91[EUR][1000 genomes]
rs57893693	0.98[EUR][1000 genomes]
rs58071351	0.91[EUR][1000 genomes]
rs58204331	0.93[EUR][1000 genomes]
rs58771204	0.84[EUR][1000 genomes]
rs59458716	0.98[EUR][1000 genomes]
rs59933112	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60350855	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs60928004	0.91[EUR][1000 genomes]
rs61592116	0.97[EUR][1000 genomes]
rs66528205	0.90[EUR][1000 genomes]
rs67960414	0.91[EUR][1000 genomes]
rs72670334	0.81[EUR][1000 genomes]
rs72670351	0.91[EUR][1000 genomes]
rs72670364	0.91[EUR][1000 genomes]
rs72670371	0.98[EUR][1000 genomes]
rs72670374	0.86[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72670375	0.98[EUR][1000 genomes]
rs72670377	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72670385	0.98[EUR][1000 genomes]
rs72670390	0.98[EUR][1000 genomes]
rs72670391	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72670396	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72670398	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72670399	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9888564	0.92[CEU][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1043033	chr14:31538984-31686696	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
5	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 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	chr14:31673600-31677600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:31673600-31678000	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr14:31673800-31677400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:31674000-31677400	Active TSS	NHLF	lung
5	chr14:31674000-31677800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:31674200-31677400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:31674200-31677400	Active TSS	GM12878-XiMat	blood
8	chr14:31674200-31677600	Active TSS	A549	lung
9	chr14:31674200-31677600	Active TSS	NHEK	skin
10	chr14:31674200-31677800	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr14:31674200-31678200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr14:31674200-31678200	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr14:31674400-31677400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:31674400-31677600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr14:31674400-31677600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:31674400-31677600	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr14:31674400-31677600	Active TSS	Stomach Smooth Muscle	stomach
18	chr14:31674400-31677600	Active TSS	NHDF-Ad	bronchial
19	chr14:31674400-31677800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:31674400-31678000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr14:31674400-31678000	Active TSS	Psoas Muscle	Psoas
22	chr14:31674600-31677600	Active TSS	Fetal Intestine Large	intestine
23	chr14:31674600-31677800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:31674800-31677600	Active TSS	Colonic Mucosa	Colon
25	chr14:31674800-31677600	Active TSS	Fetal Muscle Leg	muscle
26	chr14:31674800-31677800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:31674800-31677800	Active TSS	Aorta	Aorta
28	chr14:31674800-31677800	Active TSS	Ovary	ovary
29	chr14:31674800-31678000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:31674800-31678200	Active TSS	HSMMtube	muscle
31	chr14:31675000-31677400	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr14:31675000-31677400	Active TSS	Pancreas	Pancrea
33	chr14:31675000-31677800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr14:31675000-31677800	Active TSS	Fetal Muscle Trunk	muscle
35	chr14:31675000-31677800	Active TSS	Lung	lung
36	chr14:31675000-31678000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:31675000-31678200	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr14:31675200-31677400	Active TSS	H1 Cell Line	embryonic stem cell
39	chr14:31675200-31677400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr14:31675200-31677400	Active TSS	Fetal Thymus	thymus
41	chr14:31675200-31677400	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr14:31675200-31677600	Active TSS	Liver	Liver
43	chr14:31675200-31677600	Active TSS	Fetal Intestine Small	intestine
44	chr14:31675200-31677600	Active TSS	Fetal Kidney	kidney
45	chr14:31675200-31677600	Active TSS	Fetal Stomach	stomach
46	chr14:31675200-31677600	Active TSS	Gastric	stomach
47	chr14:31675200-31677600	Active TSS	Stomach Mucosa	stomach
48	chr14:31675200-31677600	Active TSS	HSMM	muscle
49	chr14:31675200-31677600	Active TSS	K562	blood
50	chr14:31675200-31677800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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