Variant report

Variant	rs931395
Chromosome Location	chr4:56410020-56410021
allele	C/T
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	ZBTB7A	chr4:56409984-56410387	K562	blood:	n/a	n/a
2	CEBPB	chr4:56410005-56410356	IMR90	lung:	n/a	chr4:56410171-56410184 chr4:56410173-56410184 chr4:56410173-56410182
3	ARID3A	chr4:56410007-56410420	K562	blood:	n/a	n/a
4	RUNX3	chr4:56409965-56410325	GM12878	blood:	n/a	n/a
5	E2F4	chr4:56409982-56410273	MCF10A-Er-Src	breast:	n/a	n/a
6	CTCF	chr4:56410020-56410170	RPTEC	kidney:	n/a	n/a
7	FOS	chr4:56409987-56410339	MCF10A-Er-Src	breast:	n/a	chr4:56410182-56410192
8	FOS	chr4:56409980-56410451	MCF10A-Er-Src	breast:	n/a	chr4:56410182-56410192
9	CEBPB	chr4:56409958-56410350	K562	blood:	n/a	chr4:56410171-56410184 chr4:56410173-56410184 chr4:56410173-56410182
10	CTCF	chr4:56409960-56410110	HVMF	connective:	n/a	n/a
11	FOS	chr4:56410019-56410327	MCF10A-Er-Src	breast:	n/a	chr4:56410182-56410192
12	GATA2	chr4:56410007-56410434	K562	blood:	n/a	n/a
13	ZNF384	chr4:56409779-56410488	K562	blood:	n/a	n/a
14	CTCF	chr4:56410000-56410150	NHDF-neo	bronchial:	n/a	n/a
15	CEBPB	chr4:56410004-56410456	K562	blood:	n/a	chr4:56410171-56410184 chr4:56410173-56410184 chr4:56410173-56410182
16	CTCF	chr4:56410014-56410396	K562	blood:	n/a	chr4:56410190-56410200
17	CTCF	chr4:56410020-56410170	AG04450	lung:	n/a	n/a
18	FOS	chr4:56409981-56410385	MCF10A-Er-Src	breast:	n/a	chr4:56410182-56410192

No.	Distal block	Cell Line	Cell type
1	chr4:56407970..56411777-chr4:56498734..56501001,3	K562	blood:
2	chr4:56407880..56411154-chr4:56599779..56601718,3	K562	blood:
3	chr4:56408119..56414507-chr4:56501105..56505595,8	K562	blood:

Variant related genes	Relation type
RN7SKP30	TF binding region
ENSG00000272969	TF binding region
ENSG00000109255	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1552523	1.00[AMR][1000 genomes]
rs17085690	1.00[AMR][1000 genomes]
rs17085747	1.00[AMR][1000 genomes]
rs17085816	1.00[AMR][1000 genomes]
rs17085850	1.00[AMR][1000 genomes]
rs1815041	1.00[AMR][1000 genomes]
rs1969380	1.00[AMR][1000 genomes]
rs73819627	1.00[AMR][1000 genomes]
rs73819644	1.00[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	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56361600-56411800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:56396800-56411600	Weak transcription	Psoas Muscle	Psoas
3	chr4:56399600-56411600	Weak transcription	Left Ventricle	heart
4	chr4:56399800-56411000	Weak transcription	Brain Substantia Nigra	brain
5	chr4:56400000-56410200	Weak transcription	Fetal Intestine Small	intestine
6	chr4:56401000-56411400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr4:56401200-56411800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:56401600-56410200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:56402800-56410600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:56402800-56411600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:56403000-56411400	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:56403800-56410400	Weak transcription	Fetal Stomach	stomach
13	chr4:56403800-56411800	Weak transcription	Lung	lung
14	chr4:56404600-56410200	Weak transcription	Fetal Lung	lung
15	chr4:56405000-56411000	Weak transcription	Fetal Kidney	kidney
16	chr4:56405000-56411400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:56405200-56410800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr4:56405600-56410200	Weak transcription	Hela-S3	cervix
19	chr4:56405600-56410400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr4:56405600-56411400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:56405600-56411400	Weak transcription	Fetal Thymus	thymus
22	chr4:56405800-56410200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:56405800-56410400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:56405800-56410800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr4:56405800-56411200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr4:56406000-56410400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:56406200-56410400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:56407000-56410200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:56407000-56410200	Weak transcription	NHLF	lung
30	chr4:56407000-56411000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr4:56407000-56411200	Weak transcription	Pancreas	Pancrea
32	chr4:56407000-56411400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:56407000-56411600	Weak transcription	Aorta	Aorta
34	chr4:56407000-56411800	Weak transcription	Gastric	stomach
35	chr4:56407000-56411800	Weak transcription	Spleen	Spleen
36	chr4:56407200-56410800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:56407200-56410800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr4:56407600-56410400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr4:56407800-56410200	Weak transcription	NH-A	brain
40	chr4:56408000-56410200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:56408000-56410200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr4:56408000-56410400	Weak transcription	Primary T cells from cord blood	blood
43	chr4:56408000-56410400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:56408000-56411400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr4:56408200-56410200	Weak transcription	Stomach Mucosa	stomach
46	chr4:56408800-56410200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:56408800-56410200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:56408800-56410600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr4:56408800-56410800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr4:56408800-56410800	Enhancers	Osteobl	bone

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