Variant report

Variant	rs6533436
Chromosome Location	chr4:110482043-110482044
allele	A/C
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	chr4:110481919-110482262	HepG2	liver:	n/a	chr4:110481958-110481974 chr4:110481955-110481971 chr4:110481959-110481975
2	TBP	chr4:110480799-110482172	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr4:110480787-110482527	GM18505	blood:	n/a	n/a
4	POLR2A	chr4:110481890-110482436	Gliobla	brain:	n/a	n/a
5	ZNF263	chr4:110480861-110482778	HEK293-T-REx	kidney:	n/a	n/a
6	POLR2A	chr4:110481928-110482232	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr4:110480678-110482693	GM12891	blood:	n/a	n/a
8	FOS	chr4:110481939-110482445	HUVEC	blood vessel:	n/a	chr4:110482172-110482183 chr4:110482153-110482164 chr4:110482171-110482179
9	MAX	chr4:110480705-110482377	A549	lung:	n/a	chr4:110481630-110481639
10	MAX	chr4:110480920-110482381	Hela-S3	cervix:	n/a	chr4:110481630-110481639
11	POLR2A	chr4:110480878-110482462	Hela-S3	cervix:	n/a	n/a
12	CHD1	chr4:110481508-110482621	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr4:110480932-110482583	Raji	blood:	n/a	n/a
14	SIN3AK20	chr4:110480732-110482650	MCF-7	breast:	n/a	n/a
15	POLR2A	chr4:110480841-110482537	GM15510	blood:	n/a	n/a
16	MAZ	chr4:110481932-110482595	K562	blood:	n/a	n/a
17	POLR2A	chr4:110480805-110482051	GM12878	blood:	n/a	n/a
18	MYC	chr4:110482042-110482225	MCF10A-Er-Src	breast:	n/a	n/a
19	SMC3	chr4:110481847-110482343	Hela-S3	cervix:	n/a	n/a
20	WRNIP1	chr4:110482012-110482540	GM12878	blood:	n/a	n/a
21	POLR2A	chr4:110480833-110482610	PBDE	blood:	n/a	n/a
22	SIN3A	chr4:110480811-110482609	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr4:110480858-110482051	H1-hESC	embryonic stem cell:	n/a	chr4:110481630-110481639
24	TAF1	chr4:110481992-110482340	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr4:110480741-110482635	GM12878	blood:	n/a	n/a
26	UBTF	chr4:110481195-110482467	K562	blood:	n/a	n/a
27	FOXM1	chr4:110481922-110482838	GM12878	blood:	n/a	n/a
28	POLR2A	chr4:110480776-110482493	GM12878	blood:	n/a	n/a
29	SIN3AK20	chr4:110481966-110482440	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr4:110481017-110482602	GM12878	blood:	n/a	n/a
31	MAZ	chr4:110480637-110482591	IMR90	lung:	n/a	chr4:110481630-110481639
32	UBTF	chr4:110480941-110482630	K562	blood:	n/a	n/a
33	MTA3	chr4:110480685-110482808	GM12878	blood:	n/a	n/a
34	RAD21	chr4:110481130-110482485	IMR90	lung:	n/a	n/a
35	POLR2A	chr4:110480807-110482535	GM18951	blood:	n/a	n/a
36	TCF7L2	chr4:110481158-110482518	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr4:110482000-110482150	GM12867	blood:	n/a	n/a
38	MAZ	chr4:110480878-110482769	GM12878	blood:	n/a	chr4:110481630-110481639
39	RCOR1	chr4:110481150-110482692	K562	blood:	n/a	n/a
40	STAT3	chr4:110481918-110482401	MCF10A-Er-Src	breast:	n/a	chr4:110482103-110482114 chr4:110482105-110482113
41	POLR2A	chr4:110480833-110482524	GM19193	blood:	n/a	n/a
42	SMARCB1	chr4:110480943-110482466	Hela-S3	cervix:	n/a	n/a
43	STAT3	chr4:110481931-110482296	MCF10A-Er-Src	breast:	n/a	chr4:110482103-110482114 chr4:110482105-110482113
44	RUNX3	chr4:110481933-110482734	GM12878	blood:	n/a	n/a
45	POLR2A	chr4:110481861-110482214	Hela-S3	cervix:	n/a	n/a
46	SIN3A	chr4:110481821-110482659	GM12878	blood:	n/a	n/a
47	BCLAF1	chr4:110481909-110482782	GM12878	blood:	n/a	chr4:110481958-110481971 chr4:110482500-110482509 chr4:110482503-110482512 chr4:110482391-110482399
48	POLR2A	chr4:110481926-110482707	GM12892	blood:	n/a	n/a
49	REST	chr4:110481869-110482313	SK-N-SH	brain:	n/a	n/a
50	RUNX3	chr4:110480688-110482748	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110476046..110478295-chr4:110480003..110482074,2	MCF-7	breast:
2	chr4:110481412..110482094-chr5:32444304..32445009,2	Hela-S3	cervix:

Variant related genes	Relation type
CCDC109B	TF binding region
ENSG00000056097	Chromatin interaction
ENSG00000249965	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17040540	0.82[AMR][1000 genomes]
rs28464608	0.84[AMR][1000 genomes]
rs6812670	0.84[AMR][1000 genomes]
rs6831048	0.82[AMR][1000 genomes]
rs7680129	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7692819	0.91[AMR][1000 genomes]
rs9884194	0.84[AMR][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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 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	chr4:110480200-110482600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:110480400-110482400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:110480400-110482600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:110480400-110482600	Active TSS	GM12878-XiMat	blood
5	chr4:110480400-110482800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr4:110480400-110482800	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr4:110480400-110483200	Active TSS	NHDF-Ad	bronchial
8	chr4:110480600-110482200	Active TSS	Primary T cells from cord blood	blood
9	chr4:110480600-110482200	Active TSS	Duodenum Mucosa	Duodenum
10	chr4:110480600-110482200	Active TSS	Placenta	Placenta
11	chr4:110480600-110482200	Active TSS	Fetal Stomach	stomach
12	chr4:110480600-110482200	Active TSS	Rectal Smooth Muscle	rectum
13	chr4:110480600-110482200	Active TSS	HMEC	breast
14	chr4:110480600-110482200	Active TSS	NH-A	brain
15	chr4:110480600-110482400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr4:110480600-110482400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:110480600-110482400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:110480600-110482400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr4:110480600-110482400	Active TSS	Muscle Satellite Cultured Cells	--
20	chr4:110480600-110482400	Active TSS	Osteobl	bone
21	chr4:110480600-110482600	Active TSS	H9 Cell Line	embryonic stem cell
22	chr4:110480600-110482600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:110480600-110482600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:110480600-110482600	Active TSS	Brain Cingulate Gyrus	brain
25	chr4:110480600-110482600	Active TSS	Brain Germinal Matrix	brain
26	chr4:110480600-110482600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr4:110480600-110482600	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr4:110480600-110482600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr4:110480600-110482600	Active TSS	A549	lung
30	chr4:110480600-110482800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:110480600-110482800	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr4:110480600-110482800	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr4:110480600-110482800	Active TSS	Right Atrium	heart
34	chr4:110480600-110482800	Active TSS	HSMM	muscle
35	chr4:110480600-110483000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:110480600-110483000	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr4:110480600-110483000	Active TSS	Thymus	Thymus
38	chr4:110480600-110483000	Active TSS	Hela-S3	cervix
39	chr4:110480600-110483200	Active TSS	NHLF	lung
40	chr4:110480800-110482200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:110480800-110482200	Active TSS	Gastric	stomach
42	chr4:110480800-110482200	Active TSS	Left Ventricle	heart
43	chr4:110480800-110482200	Active TSS	Stomach Mucosa	stomach
44	chr4:110480800-110482400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:110480800-110482400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:110480800-110482400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr4:110480800-110482400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:110480800-110482400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:110480800-110482400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr4:110480800-110482400	Active TSS	Aorta	Aorta

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