Variant report

Variant	rs71610891
Chromosome Location	chr4:26320533-26320534
allele	A/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	POLR2A	chr4:26320152-26322795	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr4:26320515-26322824	GM12892	blood:	n/a	n/a
3	SIN3AK20	chr4:26320507-26321790	MCF-7	breast:	n/a	n/a
4	IRF4	chr4:26320522-26321072	GM12878	blood:	n/a	n/a
5	MAX	chr4:26320305-26322870	NB4	blood:	n/a	chr4:26321515-26321525 chr4:26321518-26321528 chr4:26320772-26320782
6	POLR2A	chr4:26320475-26323197	GM12892	blood:	n/a	n/a
7	MEF2C	chr4:26320516-26321468	GM12878	blood:	n/a	n/a
8	SP1	chr4:26320495-26321073	GM12878	blood:	n/a	chr4:26320770-26320782 chr4:26320771-26320780
9	PAX5	chr4:26320436-26322363	GM12878	blood:	n/a	n/a
10	JUND	chr4:26320516-26321559	GM12878	blood:	n/a	chr4:26320731-26320738 chr4:26321412-26321426 chr4:26320719-26320727 chr4:26320731-26320739
11	POLR2A	chr4:26320528-26321590	PANC-1	pancreas:	n/a	n/a
12	BATF	chr4:26320521-26320933	GM12878	blood:	n/a	chr4:26320731-26320742
13	FOSL2	chr4:26320490-26320994	A549	lung:	n/a	chr4:26320731-26320738 chr4:26320719-26320727 chr4:26320731-26320739
14	JUN	chr4:26320429-26324200	K562	blood:	n/a	chr4:26320731-26320738 chr4:26323579-26323588 chr4:26321412-26321426 chr4:26320719-26320727 chr4:26320731-26320739
15	MTA3	chr4:26320521-26322766	GM12878	blood:	n/a	n/a
16	POLR2A	chr4:26320530-26323356	GM19099	blood:	n/a	n/a
17	SP1	chr4:26320417-26322803	HCT-116	colon:	n/a	chr4:26322536-26322545 chr4:26321519-26321531 chr4:26322260-26322271 chr4:26322571-26322583 chr4:26322260-26322272 chr4:26320770-26320782 chr4:26322262-26322271 chr4:26321519-26321531 chr4:26322571-26322583 chr4:26322261-26322275 chr4:26322573-26322582 chr4:26321516-26321530 chr4:26320771-26320780 chr4:26322261-26322270 chr4:26322239-26322250 chr4:26321520-26321529 chr4:26322260-26322272 chr4:26322572-26322581 chr4:26322568-26322582
18	ZNF384	chr4:26320517-26321235	K562	blood:	n/a	n/a
19	RCOR1	chr4:26320001-26323641	IMR90	lung:	n/a	n/a
20	POLR2A	chr4:26320516-26322841	HCT-116	colon:	n/a	n/a
21	NFIC	chr4:26320435-26321672	GM12878	blood:	n/a	n/a
22	POLR2A	chr4:26320511-26322967	K562	blood:	n/a	n/a
23	MTA3	chr4:26320511-26321057	GM12878	blood:	n/a	n/a
24	TCF12	chr4:26320533-26321673	ECC-1	luminal epithelium:	n/a	chr4:26320864-26320874
25	FOS	chr4:26320523-26321004	HUVEC	blood vessel:	n/a	chr4:26320729-26320740 chr4:26320731-26320738 chr4:26320717-26320728 chr4:26320719-26320727 chr4:26320731-26320739
26	SETDB1	chr4:26319998-26320947	U2OS	brain:	n/a	n/a
27	ELF1	chr4:26320512-26322745	GM12878	blood:	n/a	chr4:26321622-26321631 chr4:26320768-26320777 chr4:26322509-26322518 chr4:26320769-26320781 chr4:26321583-26321594 chr4:26321582-26321595 chr4:26321584-26321593 chr4:26322506-26322515
28	PML	chr4:26320444-26322812	GM12878	blood:	n/a	n/a
29	E2F4	chr4:26320504-26322708	MCF10A-Er-Src	breast:	n/a	chr4:26322262-26322271 chr4:26322507-26322517 chr4:26322533-26322543 chr4:26320771-26320780 chr4:26321200-26321211 chr4:26320778-26320787
30	BCL3	chr4:26320491-26321594	GM12878	blood:	n/a	chr4:26321351-26321364 chr4:26320895-26320908 chr4:26320774-26320787
31	POLR2A	chr4:26320438-26323780	Hela-S3	cervix:	n/a	n/a
32	BATF	chr4:26320514-26321050	GM12878	blood:	n/a	chr4:26320731-26320742
33	POLR2A	chr4:26320488-26322830	GM12892	blood:	n/a	n/a
34	POLR2A	chr4:26320497-26322831	GM12878	blood:	n/a	n/a
35	TCF12	chr4:26320421-26321773	SK-N-SH	brain:	n/a	chr4:26320864-26320874 chr4:26321692-26321699
36	CEBPB	chr4:26320509-26321346	GM12878	blood:	n/a	n/a
37	POLR2A	chr4:26320461-26322877	GM12892	blood:	n/a	n/a
38	MAZ	chr4:26320236-26322946	IMR90	lung:	n/a	chr4:26321515-26321525 chr4:26321518-26321528 chr4:26320772-26320782
39	HCFC1	chr4:26320425-26321726	Hela-S3	cervix:	n/a	n/a
40	SP1	chr4:26320410-26322900	HCT-116	colon:	n/a	chr4:26322536-26322545 chr4:26321519-26321531 chr4:26322260-26322271 chr4:26322571-26322583 chr4:26322260-26322272 chr4:26320770-26320782 chr4:26322262-26322271 chr4:26321519-26321531 chr4:26322571-26322583 chr4:26322261-26322275 chr4:26322573-26322582 chr4:26321516-26321530 chr4:26320771-26320780 chr4:26322261-26322270 chr4:26322239-26322250 chr4:26321520-26321529 chr4:26322260-26322272 chr4:26322572-26322581 chr4:26322568-26322582
41	POLR2A	chr4:26320441-26324027	H1-hESC	embryonic stem cell:	n/a	n/a
42	RFX5	chr4:26320520-26322927	SK-N-SH	brain:	n/a	n/a
43	GATA3	chr4:26320438-26321655	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr4:26320445-26322768	U87	brain:	n/a	n/a
45	HA-E2F1	chr4:26320278-26322720	MCF-7	breast:	n/a	chr4:26322262-26322271 chr4:26322507-26322517 chr4:26322533-26322543 chr4:26320771-26320780 chr4:26321200-26321211 chr4:26320778-26320787
46	POLR2A	chr4:26320445-26322774	U87	brain:	n/a	n/a
47	IRF4	chr4:26320476-26321623	GM12878	blood:	n/a	n/a
48	TCF12	chr4:26320427-26321058	SK-N-SH	brain:	n/a	chr4:26320864-26320874
49	POLR2A	chr4:26320518-26323509	GM18505	blood:	n/a	n/a
50	NFATC1	chr4:26320517-26321580	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:26273779..26276561-chr4:26318606..26321595,2	MCF-7	breast:
2	chr3:129345611..129346309-chr4:26319812..26320741,2	NB4	blood:
3	chr4:26319239..26325766-chr4:26360124..26364446,7	MCF-7	breast:

Variant related genes	Relation type
RBPJ	TF binding region
ENSG00000168214	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13107090	1.00[AFR][1000 genomes]
rs13145175	1.00[AFR][1000 genomes]
rs71610890	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829889	chr4:26169954-26338313	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26301600-26320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:26309600-26320600	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:26319800-26324800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr4:26320000-26320600	Enhancers	Dnd41	blood
5	chr4:26320000-26320600	Weak transcription	NHLF	lung
6	chr4:26320000-26321200	Active TSS	Primary hematopoietic stem cells	blood
7	chr4:26320000-26322400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:26320000-26323600	Active TSS	Rectal Smooth Muscle	rectum
9	chr4:26320000-26324200	Active TSS	Hela-S3	cervix
10	chr4:26320200-26320600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:26320200-26320600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr4:26320200-26320600	ZNF genes & repeats	Fetal Intestine Small	intestine
13	chr4:26320200-26320600	Enhancers	Placenta	Placenta
14	chr4:26320200-26320600	Enhancers	Fetal Thymus	thymus
15	chr4:26320200-26320800	Weak transcription	Spleen	Spleen
16	chr4:26320200-26321000	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr4:26320200-26321000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr4:26320200-26321000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:26320200-26321400	Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr4:26320200-26321400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:26320200-26321400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr4:26320200-26321600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:26320200-26321600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr4:26320200-26321600	Active TSS	HepG2	liver
25	chr4:26320200-26323000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:26320200-26323800	Active TSS	K562	blood
27	chr4:26320200-26324000	Active TSS	A549	lung
28	chr4:26320200-26324400	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr4:26320200-26324800	Active TSS	HSMMtube	muscle
30	chr4:26320200-26325200	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr4:26320200-26326200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:26320400-26320600	Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr4:26320400-26320600	Enhancers	Primary B cells from peripheral blood	blood
34	chr4:26320400-26320600	Enhancers	Fetal Brain Male	brain
35	chr4:26320400-26320600	Enhancers	Fetal Muscle Trunk	muscle
36	chr4:26320400-26320600	Enhancers	Fetal Muscle Leg	muscle
37	chr4:26320400-26320600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr4:26320400-26320600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr4:26320400-26321000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:26320400-26321200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr4:26320400-26321400	Active TSS	Primary monocytes fromperipheralblood	blood
42	chr4:26320400-26321400	Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr4:26320400-26321400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:26320400-26321400	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr4:26320400-26321400	Active TSS	NH-A	brain
46	chr4:26320400-26321600	Active TSS	Primary T cells from cord blood	blood
47	chr4:26320400-26321600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:26320400-26321600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:26320400-26321600	Active TSS	Stomach Smooth Muscle	stomach
50	chr4:26320400-26321600	Active TSS	GM12878-XiMat	blood

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