Variant report

Variant	rs10433686
Chromosome Location	chr4:48271963-48271964
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:264)
CpG islands
(count:183)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr4:48271327-48272545	K562	blood:	n/a	n/a
2	GABPA	chr4:48271955-48272132	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr4:48271896-48272203	SK-N-SH	brain:	n/a	n/a
4	BHLHE40	chr4:48270826-48272646	GM12878	blood:	n/a	chr4:48272386-48272407 chr4:48272391-48272400 chr4:48271167-48271176 chr4:48271162-48271183
5	POLR2A	chr4:48271912-48272687	GM12892	blood:	n/a	n/a
6	CTCF	chr4:48271949-48272218	HepG2	liver:	n/a	chr4:48272167-48272176
7	TEAD4	chr4:48271919-48272352	K562	blood:	n/a	n/a
8	SIN3AK20	chr4:48271845-48272253	SK-N-SH	brain:	n/a	n/a
9	PAX5	chr4:48271908-48272554	GM12878	blood:	n/a	chr4:48272422-48272441 chr4:48272084-48272094
10	PML	chr4:48271272-48272558	K562	blood:	n/a	n/a
11	EBF1	chr4:48271914-48272469	GM12878	blood:	n/a	chr4:48272152-48272163
12	MAX	chr4:48271923-48272561	ECC-1	luminal epithelium:	n/a	n/a
13	EGR1	chr4:48271890-48272347	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr4:48271925-48272091	SK-N-SH_RA	brain:	n/a	n/a
15	TAF1	chr4:48271383-48272432	ECC-1	luminal epithelium:	n/a	n/a
16	TAF1	chr4:48271950-48272375	PFSK-1	brain:	n/a	n/a
17	RELA	chr4:48271745-48272697	GM19099	blood:	n/a	n/a
18	HDAC2	chr4:48271927-48272164	K562	blood:	n/a	n/a
19	POLR2A	chr4:48271205-48272817	GM12878	blood:	n/a	n/a
20	POLR2A	chr4:48271295-48272388	K562	blood:	n/a	n/a
21	POLR2A	chr4:48271921-48272371	A549	lung:	n/a	n/a
22	GTF2F1	chr4:48271931-48272515	Hela-S3	cervix:	n/a	n/a
23	ZNF143	chr4:48271953-48272240	Hela-S3	cervix:	n/a	n/a
24	TBP	chr4:48271947-48272619	GM12878	blood:	n/a	n/a
25	POLR2A	chr4:48271330-48272331	MCF-7	breast:	n/a	n/a
26	BHLHE40	chr4:48269776-48272702	K562	blood:	n/a	chr4:48272386-48272407 chr4:48272391-48272400 chr4:48271167-48271176 chr4:48271162-48271183
27	POLR2A	chr4:48271929-48272204	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr4:48271846-48272496	GM12878	blood:	n/a	chr4:48272167-48272176
29	TCF7L2	chr4:48271150-48272503	HCT-116	colon:	n/a	chr4:48271163-48271172
30	HMGN3	chr4:48271347-48272229	K562	blood:	n/a	n/a
31	PAX5	chr4:48271477-48272352	GM12892	blood:	n/a	chr4:48272084-48272094
32	RELA	chr4:48271221-48273441	GM19193	blood:	n/a	n/a
33	POLR2A	chr4:48271297-48272377	GM12878	blood:	n/a	n/a
34	POLR2A	chr4:48271148-48272531	GM15510	blood:	n/a	n/a
35	UBTF	chr4:48271302-48272505	K562	blood:	n/a	n/a
36	FOXM1	chr4:48271892-48272612	GM12878	blood:	n/a	n/a
37	POLR2A	chr4:48271738-48272086	HUVEC	blood vessel:	n/a	n/a
38	BCL3	chr4:48271926-48272500	GM12878	blood:	n/a	chr4:48272028-48272041
39	HDAC2	chr4:48271324-48272522	MCF-7	breast:	n/a	n/a
40	TRIM28	chr4:48271961-48272500	K562	blood:	n/a	n/a
41	POLR2A	chr4:48271343-48272565	K562	blood:	n/a	n/a
42	GTF2B	chr4:48271939-48272223	K562	blood:	n/a	n/a
43	POLR2A	chr4:48271937-48272313	A549	lung:	n/a	n/a
44	TCF12	chr4:48271910-48272290	A549	lung:	n/a	chr4:48272251-48272258
45	MAX	chr4:48270930-48272770	HCT-116	colon:	n/a	n/a
46	MTA3	chr4:48271915-48273593	GM12878	blood:	n/a	n/a
47	RUNX3	chr4:48270974-48272543	GM12878	blood:	n/a	n/a
48	POLR2A	chr4:48271319-48272340	K562	blood:	n/a	n/a
49	RAD21	chr4:48271931-48272088	K562	blood:	n/a	chr4:48272028-48272041
50	POLR2A	chr4:48271318-48272417	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:48271923-48271973	SK-N-SH_RA	brain:	n/a
2	chr4:48271923-48271973	K562	blood:	n/a
3	chr4:48271942-48271992	AG09319	gingival:	n/a
4	chr4:48271942-48271992	SKMC	muscle:	n/a
5	chr4:48271918-48271968	SAEC	small airway:	n/a
6	chr4:48271918-48271968	CMK	blood:	n/a
7	chr4:48271923-48271973	AG09309	skin:	n/a
8	chr4:48271942-48271992	NH-A	brain:	n/a
9	chr4:48271918-48271968	HNPCEpiC	eye:	n/a
10	chr4:48271923-48271973	HCM	heart:	n/a
11	chr4:48271923-48271973	MCF10A-Er-Src	breast:	n/a
12	chr4:48271942-48271992	Jurkat	blood:	n/a
13	chr4:48271942-48271992	AG10803	skin:	n/a
14	chr4:48271918-48271968	GM12878	blood:	n/a
15	chr4:48271942-48271992	HEEpiC	esophagus:	n/a
16	chr4:48271923-48271973	HMEC	breast:	n/a
17	chr4:48271942-48271992	AG04449	skin:	fetal
18	chr4:48271942-48271992	ovcar-3	ovarian:	n/a
19	chr4:48271923-48271973	HPAEpiC	pulmonary alveolar:	n/a
20	chr4:48271918-48271968	HRPEpiC	eye:	n/a
21	chr4:48271918-48271968	LNCaP	prostate:	n/a
22	chr4:48271942-48271992	SK-N-SH	brain:	n/a
23	chr4:48271918-48271968	PFSK-1	brain:	n/a
24	chr4:48271942-48271992	AoSMC	blood vessel:	n/a
25	chr4:48271918-48271968	MCF-7	breast:	n/a
26	chr4:48271918-48271968	PANC-1	pancreas:	n/a
27	chr4:48271918-48271968	AG04449	skin:	fetal
28	chr4:48271923-48271973	HCT-116	colon:	n/a
29	chr4:48271942-48271992	HRPEpiC	eye:	n/a
30	chr4:48271918-48271968	HCM	heart:	n/a
31	chr4:48271942-48271992	ECC-1	luminal epithelium:	n/a
32	chr4:48271918-48271968	SKMC	muscle:	n/a
33	chr4:48271923-48271973	NHDF-neo	bronchial:	n/a
34	chr4:48271923-48271973	SK-N-MC	brain:	n/a
35	chr4:48271942-48271992	HL-60	blood:	n/a
36	chr4:48271942-48271992	HNPCEpiC	eye:	n/a
37	chr4:48271923-48271973	Hela-S3	cervix:	n/a
38	chr4:48271923-48271973	HAEpiC	amniotic membrane:	n/a
39	chr4:48271923-48271973	PANC-1	pancreas:	n/a
40	chr4:48271942-48271992	U87	brain:	n/a
41	chr4:48271923-48271973	ProgFib	skin:	n/a
42	chr4:48271923-48271973	LNCaP	prostate:	n/a
43	chr4:48271942-48271992	GM06990	blood:	n/a
44	chr4:48271923-48271973	GM19239	blood:	n/a
45	chr4:48271918-48271968	Caco-2	colon:	n/a
46	chr4:48271942-48271992	BJ	skin:	n/a
47	chr4:48271923-48271973	SK-N-SH	brain:	n/a
48	chr4:48271918-48271968	AG09319	gingival:	n/a
49	chr4:48271942-48271992	AG09309	skin:	n/a
50	chr4:48271923-48271973	HIPEpiC	eye:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:48271855..48272497-chr7:75544014..75544536,2	NB4	blood:
2	chr17:74448509..74449477-chr4:48271558..48272150,2	Hela-S3	cervix:
3	chr16:30388892..30389437-chr4:48271312..48272199,2	Hela-S3	cervix:
4	chr12:120729424..120730098-chr4:48271378..48272195,2	Hela-S3	cervix:
5	chr2:96873932..96874574-chr4:48271406..48272081,2	Hela-S3	cervix:
6	chr4:48270358..48273390-chr4:48340605..48344777,4	MCF-7	breast:
7	chr4:48270141..48273598-chr4:48341900..48344865,7	K562	blood:
8	chr17:42297784..42298646-chr4:48271426..48272068,2	Hela-S3	cervix:
9	chr1:110090966..110091798-chr4:48271404..48272367,2	Hela-S3	cervix:
10	chr16:9185283..9185902-chr4:48271309..48272302,2	Hela-S3	cervix:
11	chr12:56511687..56512571-chr4:48271561..48272061,2	Hela-S3	cervix:
12	chr4:48269261..48273807-chr4:48342628..48344865,6	K562	blood:

No data

Variant related genes	Relation type
TEC	TF binding region
TEC	CpG island
ENSG00000129673	Chromatin interaction
ENSG00000109171	Chromatin interaction
ENSG00000127948	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000175931	Chromatin interaction
ENSG00000265020	Chromatin interaction
ENSG00000065135	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000204685	Chromatin interaction
ENSG00000108312	Chromatin interaction
ENSG00000182831	Chromatin interaction
ENSG00000084090	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10433724	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11724334	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11732570	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11932069	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11934137	0.91[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12499189	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1509655	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs170145	0.80[EUR][1000 genomes]
rs1828297	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1848742	1.00[CEU][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1912162	1.00[CEU][hapmap];0.89[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2036766	0.83[ASN][1000 genomes]
rs2136503	1.00[CEU][hapmap];0.88[JPT][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2664024	1.00[CEU][hapmap]
rs373720	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4529022	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4694892	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56063319	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58166553	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58372912	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59349478	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59741528	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62309361	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62309362	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62311478	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62311498	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6447626	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6447627	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6836661	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6840958	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6852406	1.00[CEU][hapmap];0.88[JPT][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6858850	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7657451	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7659044	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7666809	1.00[CEU][hapmap]
rs7688059	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7693991	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv461357	chr4:48248258-48274152	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	nsv594119	chr4:48248258-48274152	Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
8	nsv470032	chr4:48251915-48312389	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv461358	chr4:48251916-48274152	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
10	nsv594120	chr4:48251916-48274152	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48269800-48272800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:48270000-48272400	Active TSS	Primary T killer memory cells from peripheral blood	blood
3	chr4:48270200-48272200	Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr4:48270400-48272200	Active TSS	GM12878-XiMat	blood
5	chr4:48270600-48272400	Active TSS	Right Ventricle	heart
6	chr4:48270600-48272600	Active TSS	NHDF-Ad	bronchial
7	chr4:48270600-48272800	Active TSS	A549	lung
8	chr4:48270600-48272800	Active TSS	NHLF	lung
9	chr4:48270800-48272000	Active TSS	Fetal Thymus	thymus
10	chr4:48270800-48272200	Active TSS	H1 Cell Line	embryonic stem cell
11	chr4:48270800-48272200	Active TSS	NHEK	skin
12	chr4:48270800-48272400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr4:48270800-48272400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr4:48270800-48272400	Active TSS	Fetal Intestine Large	intestine
15	chr4:48270800-48272400	Active TSS	Fetal Intestine Small	intestine
16	chr4:48270800-48272400	Active TSS	Fetal Kidney	kidney
17	chr4:48270800-48272400	Active TSS	Fetal Lung	lung
18	chr4:48270800-48272400	Active TSS	HSMM	muscle
19	chr4:48270800-48272400	Active TSS	K562	blood
20	chr4:48270800-48272600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr4:48270800-48272600	Active TSS	HSMMtube	muscle
22	chr4:48270800-48272800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr4:48270800-48272800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr4:48270800-48272800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:48270800-48272800	Active TSS	Primary T cells from cord blood	blood
26	chr4:48270800-48272800	Active TSS	Rectal Smooth Muscle	rectum
27	chr4:48271000-48272000	Active TSS	Primary T cells fromperipheralblood	blood
28	chr4:48271000-48272000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:48271000-48272000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:48271000-48272200	Active TSS	Primary B cells from peripheral blood	blood
31	chr4:48271000-48272200	Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr4:48271000-48272200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:48271000-48272200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr4:48271000-48272200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr4:48271000-48272200	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr4:48271000-48272200	Active TSS	Thymus	Thymus
37	chr4:48271000-48272400	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr4:48271000-48272400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:48271000-48272400	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr4:48271000-48272400	Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr4:48271000-48272400	Active TSS	Duodenum Mucosa	Duodenum
42	chr4:48271000-48272400	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr4:48271000-48272400	Active TSS	Hela-S3	cervix
44	chr4:48271000-48272600	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr4:48271000-48272600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr4:48271000-48272600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:48271000-48272600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr4:48271000-48272600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:48271000-48272600	Active TSS	Liver	Liver
50	chr4:48271000-48272600	Active TSS	Pancreatic Islets	Pancreatic Islet

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