Variant report

Variant	rs6833047
Chromosome Location	chr4:100868443-100868444
allele	C/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	MAX	chr4:100867563-100868509	MCF-7	breast:	n/a	n/a
2	POLR2A	chr4:100867018-100869286	K562	blood:	n/a	n/a
3	NFIC	chr4:100867534-100868460	ECC-1	luminal epithelium:	n/a	n/a
4	BCL3	chr4:100867503-100869024	A549	lung:	n/a	chr4:100868305-100868314
5	ELF1	chr4:100867205-100868517	K562	blood:	n/a	chr4:100867411-100867423 chr4:100867351-100867363 chr4:100868306-100868315 chr4:100868305-100868316
6	POLR2A	chr4:100867544-100869359	K562	blood:	n/a	n/a
7	MAZ	chr4:100866745-100868746	IMR90	lung:	n/a	chr4:100867236-100867246 chr4:100867430-100867440 chr4:100867488-100867498
8	E2F4	chr4:100868049-100868443	GM12878	blood:	n/a	n/a
9	ETS1	chr4:100867584-100868483	K562	blood:	n/a	chr4:100868305-100868314 chr4:100868305-100868314 chr4:100868303-100868313 chr4:100868303-100868314
10	RCOR1	chr4:100867677-100868449	K562	blood:	n/a	n/a
11	ZNF384	chr4:100868251-100868746	GM12878	blood:	n/a	n/a
12	GABPA	chr4:100867247-100868620	MCF-7	breast:	n/a	n/a
13	NR2F2	chr4:100867882-100868485	K562	blood:	n/a	n/a
14	POLR2A	chr4:100866646-100869373	GM12878	blood:	n/a	n/a
15	TCF12	chr4:100867476-100868776	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr4:100867209-100869342	GM12892	blood:	n/a	n/a
17	POLR2A	chr4:100867247-100869314	K562	blood:	n/a	n/a
18	TCF7L2	chr4:100867847-100868969	PANC-1	pancreas:	n/a	chr4:100868838-100868847
19	USF2	chr4:100868134-100868665	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr4:100867361-100869261	GM12892	blood:	n/a	n/a
21	RUNX3	chr4:100867036-100868813	GM12878	blood:	n/a	n/a
22	POLR2A	chr4:100867579-100868840	HepG2	liver:	n/a	n/a
23	TRIM28	chr4:100867530-100869152	K562	blood:	n/a	n/a
24	POLR2A	chr4:100867156-100868713	ProgFib	skin:	n/a	n/a
25	POLR2A	chr4:100867455-100869237	PFSK-1	brain:	n/a	n/a
26	TEAD4	chr4:100867622-100868684	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr4:100867543-100869155	K562	blood:	n/a	n/a
28	ELF1	chr4:100867057-100868836	GM12878	blood:	n/a	chr4:100867411-100867423 chr4:100867351-100867363 chr4:100868306-100868315 chr4:100868305-100868316
29	POLR2A	chr4:100867062-100869317	H1-hESC	embryonic stem cell:	n/a	n/a
30	UBTF	chr4:100867084-100868631	K562	blood:	n/a	n/a
31	MXI1	chr4:100868293-100868773	K562	blood:	n/a	n/a
32	POLR2A	chr4:100867427-100868846	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr4:100867181-100868655	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr4:100867156-100869393	K562	blood:	n/a	n/a
35	POLR2A	chr4:100867376-100868722	HUVEC	blood vessel:	n/a	n/a
36	PML	chr4:100867897-100869115	K562	blood:	n/a	n/a
37	BHLHE40	chr4:100867591-100868692	GM12878	blood:	n/a	n/a
38	KAP1	chr4:100868038-100868559	U2OS	brain:	n/a	n/a
39	POLR2A	chr4:100867264-100869550	PFSK-1	brain:	n/a	n/a
40	NFATC1	chr4:100867540-100869025	GM12878	blood:	n/a	n/a
41	POLR2A	chr4:100867205-100869132	GM12878	blood:	n/a	n/a
42	BCL3	chr4:100867607-100868557	GM12878	blood:	n/a	chr4:100868305-100868314
43	POLR2A	chr4:100867159-100868628	GM12878	blood:	n/a	n/a
44	MAX	chr4:100867530-100868491	SK-N-SH	brain:	n/a	n/a
45	SMC3	chr4:100867951-100868469	K562	blood:	n/a	n/a
46	RFX5	chr4:100868185-100868711	K562	blood:	n/a	n/a
47	ETS1	chr4:100868024-100868451	A549	lung:	n/a	chr4:100868305-100868314 chr4:100868305-100868314 chr4:100868303-100868313 chr4:100868303-100868314
48	TEAD4	chr4:100867887-100868775	K562	blood:	n/a	n/a
49	PML	chr4:100867084-100869044	GM12878	blood:	n/a	chr4:100867376-100867384
50	MTA3	chr4:100867045-100869185	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:100008800..100012914-chr4:100866380..100869813,4	K562	blood:
2	chr4:100777426..100780201-chr4:100868427..100870605,2	K562	blood:
3	chr4:100799869..100822436-chr4:100866015..100873106,54	K562	blood:
4	chr4:100008800..100013313-chr4:100866380..100869813,5	K562	blood:
5	chr4:100868231..100870491-chr4:101024426..101027309,2	K562	blood:
6	chr4:100868036..100870819-chr4:100983381..100985122,2	K562	blood:
7	chr4:100813266..100817175-chr4:100865527..100871657,11	MCF-7	breast:
8	chr4:100848205..100853069-chr4:100866591..100869335,5	MCF-7	breast:
9	chr4:100814213..100816552-chr4:100866797..100868818,3	MCF-7	breast:
10	chr4:87927389..87929061-chr4:100868201..100870359,2	K562	blood:
11	chr4:100735638..100738493-chr4:100866484..100869243,2	MCF-7	breast:
12	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
13	chr4:100480938..100486909-chr4:100867873..100873651,15	K562	blood:
14	chr4:100458736..100461686-chr4:100868132..100870522,2	K562	blood:
15	chr4:100845037..100846550-chr4:100867903..100869729,2	MCF-7	breast:
16	chr4:100850716..100855335-chr4:100865818..100872882,15	K562	blood:
17	chr4:100840471..100849591-chr4:100866268..100873122,18	K562	blood:
18	chr4:100826139..100827985-chr4:100868304..100870406,2	K562	blood:

Variant related genes	Relation type
DNAJB14	TF binding region
ENSG00000245322	TF binding region
ENSG00000109270	Chromatin interaction
ENSG00000164031	Chromatin interaction
ENSG00000070190	Chromatin interaction
ENSG00000145331	Chromatin interaction
ENSG00000197894	Chromatin interaction
ENSG00000246090	Chromatin interaction
ENSG00000138823	Chromatin interaction
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs57427258	1.00[AFR][1000 genomes]
rs72913042	1.00[AFR][1000 genomes]
rs72918771	1.00[AFR][1000 genomes]
rs72918775	1.00[AFR][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	nsv879661	chr4:100805207-100869635	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv879662	chr4:100849466-100876648	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
3	nsv879663	chr4:100866460-100876648	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 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	chr4:100865800-100868600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:100866000-100868600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr4:100866000-100868800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:100866400-100868600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:100866600-100868600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:100866600-100868600	Active TSS	Psoas Muscle	Psoas
7	chr4:100866800-100868600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:100866800-100868600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr4:100866800-100868800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:100866800-100868800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:100866800-100869000	Active TSS	Aorta	Aorta
12	chr4:100867000-100868600	Active TSS	Gastric	stomach
13	chr4:100867000-100868600	Active TSS	Pancreas	Pancrea
14	chr4:100867000-100868800	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr4:100867000-100868800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:100868000-100868600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr4:100868000-100868600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr4:100868000-100868600	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr4:100868000-100868600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:100868000-100868600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:100868000-100868600	Flanking Active TSS	Colonic Mucosa	Colon
22	chr4:100868000-100868600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr4:100868000-100868600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr4:100868000-100868600	Flanking Active TSS	HMEC	breast
25	chr4:100868000-100868800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr4:100868000-100868800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:100868000-100868800	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr4:100868000-100868800	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr4:100868000-100868800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr4:100868000-100869200	Flanking Active TSS	GM12878-XiMat	blood
31	chr4:100868000-100871000	Transcr. at gene 5' and 3'	Dnd41	blood
32	chr4:100868200-100868600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:100868200-100868600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr4:100868200-100868600	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr4:100868200-100868600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr4:100868200-100868600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr4:100868200-100868600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:100868200-100868600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:100868200-100868600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:100868200-100868600	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr4:100868200-100868600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr4:100868200-100868600	Flanking Active TSS	Brain Substantia Nigra	brain
43	chr4:100868200-100868600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr4:100868200-100868600	Flanking Active TSS	Placenta	Placenta
45	chr4:100868200-100868600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
46	chr4:100868200-100868600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
47	chr4:100868200-100868600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr4:100868200-100868600	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr4:100868200-100868600	Flanking Active TSS	Hela-S3	cervix
50	chr4:100868200-100868600	Flanking Active TSS	HSMMtube	muscle

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