Variant report

Variant	rs6938025
Chromosome Location	chr6:119218097-119218098
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	FOSL1	chr6:119217236-119218166	HCT-116	colon:	n/a	chr6:119217828-119217836 chr6:119217829-119217836 chr6:119217604-119217611 chr6:119217604-119217612 chr6:119217828-119217836 chr6:119217603-119217613 chr6:119217604-119217612
2	JUND	chr6:119217406-119218138	HCT-116	colon:	n/a	chr6:119217828-119217836 chr6:119217829-119217836 chr6:119217604-119217611 chr6:119217826-119217837 chr6:119217604-119217612 chr6:119217828-119217836 chr6:119217603-119217613 chr6:119217604-119217612
3	CTCF	chr6:119218080-119218230	HVMF	connective:	n/a	n/a
4	CTCF	chr6:119218020-119218170	HepG2	liver:	n/a	n/a
5	CEBPB	chr6:119217426-119218188	A549	lung:	n/a	n/a
6	TCF12	chr6:119217450-119218105	A549	lung:	n/a	n/a
7	TRIM28	chr6:119217378-119218157	K562	blood:	n/a	chr6:119217602-119217611
8	CTCF	chr6:119218045-119218126	MCF-7	breast:	n/a	n/a
9	CTCF	chr6:119217385-119218112	A549	lung:	n/a	n/a
10	CTCF	chr6:119218037-119218243	GM19238	blood:	n/a	n/a
11	CTCF	chr6:119218032-119218284	GM19240	blood:	n/a	n/a
12	CBX3	chr6:119217383-119218151	HCT-116	colon:	n/a	chr6:119217965-119217976
13	CBX3	chr6:119217409-119218274	K562	blood:	n/a	chr6:119217965-119217976
14	CTCF	chr6:119218032-119218170	GM12891	blood:	n/a	n/a
15	CTCF	chr6:119218060-119218210	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr6:119218061-119218170	MCF-7	breast:	n/a	n/a
17	CTCF	chr6:119218068-119218181	NHEK	skin:	n/a	n/a
18	CTCF	chr6:119217980-119218130	GM12872	blood:	n/a	n/a
19	CTCF	chr6:119218042-119218159	GM19239	blood:	n/a	n/a
20	POLR2A	chr6:119217320-119218549	K562	blood:	n/a	n/a
21	POLR2A	chr6:119218080-119218232	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr6:119218034-119218163	GM12892	blood:	n/a	n/a
23	TEAD4	chr6:119217240-119218155	HepG2	liver:	n/a	n/a
24	POLR2A	chr6:119217437-119218517	HepG2	liver:	n/a	n/a
25	CTCF	chr6:119218080-119218230	HA-sp	spinal cord:	n/a	n/a
26	CEBPB	chr6:119217974-119218241	K562	blood:	n/a	n/a
27	CTCF	chr6:119218080-119218230	GM12869	blood:	n/a	n/a
28	POLR2A	chr6:119218007-119218132	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr6:119217998-119218340	K562	blood:	n/a	n/a
30	CTCF	chr6:119217518-119218173	HCT-116	colon:	n/a	n/a
31	FOSL2	chr6:119217387-119218122	SK-N-SH	brain:	n/a	chr6:119217828-119217836 chr6:119217829-119217836 chr6:119217604-119217611 chr6:119217604-119217612 chr6:119217828-119217836 chr6:119217603-119217613 chr6:119217604-119217612
32	TEAD4	chr6:119217362-119218105	K562	blood:	n/a	n/a
33	CBX3	chr6:119217348-119218163	HCT-116	colon:	n/a	chr6:119217965-119217976
34	CTCF	chr6:119218037-119218157	MCF-7	breast:	n/a	n/a
35	MAX	chr6:119217397-119218154	HCT-116	colon:	n/a	chr6:119217604-119217613 chr6:119217827-119217836
36	CEBPB	chr6:119217988-119218223	K562	blood:	n/a	n/a
37	POLR2A	chr6:119217924-119218267	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr6:119218078-119218164	Gliobla	brain:	n/a	n/a
39	POLR2A	chr6:119218006-119218173	MCF-7	breast:	n/a	n/a
40	CTCF	chr6:119217980-119218130	NHDF-neo	bronchial:	n/a	n/a
41	FOSL1	chr6:119217425-119218116	HCT-116	colon:	n/a	chr6:119217828-119217836 chr6:119217829-119217836 chr6:119217604-119217611 chr6:119217604-119217612 chr6:119217828-119217836 chr6:119217603-119217613 chr6:119217604-119217612
42	NR2F2	chr6:119217342-119218241	K562	blood:	n/a	n/a
43	CTCF	chr6:119218056-119218159	MCF-7	breast:	n/a	n/a
44	CEBPB	chr6:119217987-119218244	HepG2	liver:	n/a	n/a
45	CTCF	chr6:119218040-119218190	GM12870	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:119214552..119219906-chr6:119253918..119257622,8	MCF-7	breast:
2	chr6:119216722..119218492-chr6:119251658..119253168,2	K562	blood:
3	chr6:119213105..119220728-chr6:119253299..119257962,22	K562	blood:
4	chr6:119213694..119219544-chr6:119251621..119258172,21	K562	blood:
5	chr6:119030681..119033583-chr6:119216548..119219009,2	K562	blood:
6	chr6:119215906..119219234-chr6:119443291..119446175,3	K562	blood:
7	chr6:119217885..119221356-chr6:119243903..119247955,3	K562	blood:
8	chr6:119215924..119218586-chr6:119236069..119238504,2	K562	blood:
9	chr6:119217885..119219986-chr6:119244920..119246613,2	K562	blood:
10	chr6:119216161..119219506-chr6:119398191..119401599,4	K562	blood:

Variant related genes	Relation type
MCM9	TF binding region
ENSG00000111877	Chromatin interaction
ENSG00000111860	Chromatin interaction
ENSG00000253194	Chromatin interaction
ENSG00000111879	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17080794	0.92[EUR][1000 genomes]
rs41292560	0.92[EUR][1000 genomes]
rs55687209	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55856250	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58731969	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59573939	0.92[EUR][1000 genomes]
rs60170790	0.92[EUR][1000 genomes]
rs60397260	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6905813	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6911997	1.00[EUR][1000 genomes]
rs6925138	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6927108	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73766829	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73766830	0.86[AFR][1000 genomes]
rs73766832	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73767211	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73767215	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73767216	0.92[EUR][1000 genomes]
rs73767219	0.92[EUR][1000 genomes]
rs73767226	0.92[EUR][1000 genomes]
rs73767230	0.92[EUR][1000 genomes]
rs73768550	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73768551	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1023826	chr6:119026481-119221408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr6:119213600-119218200	Active TSS	NHLF	lung
2	chr6:119213800-119218200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
3	chr6:119214200-119218200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:119214400-119218200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:119214600-119218200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:119216600-119219600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:119216600-119220200	Weak transcription	Pancreas	Pancrea
8	chr6:119216600-119220200	Weak transcription	Spleen	Spleen
9	chr6:119216600-119220400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:119216600-119220400	Weak transcription	Esophagus	oesophagus
11	chr6:119216600-119224400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:119216600-119233800	Weak transcription	Lung	lung
13	chr6:119216600-119236600	Weak transcription	Gastric	stomach
14	chr6:119216600-119243800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:119216800-119218200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr6:119216800-119218200	Weak transcription	Fetal Intestine Small	intestine
17	chr6:119216800-119218600	Enhancers	Primary B cells from peripheral blood	blood
18	chr6:119216800-119219200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr6:119216800-119219200	Weak transcription	Placenta	Placenta
20	chr6:119216800-119219600	Weak transcription	HSMM	muscle
21	chr6:119216800-119220200	Weak transcription	Right Ventricle	heart
22	chr6:119216800-119230600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:119216800-119232400	Weak transcription	Colonic Mucosa	Colon
24	chr6:119216800-119232600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr6:119216800-119233200	Weak transcription	Aorta	Aorta
26	chr6:119216800-119235800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:119217000-119218400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr6:119217000-119218400	Enhancers	Liver	Liver
29	chr6:119217000-119218600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:119217000-119220200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:119217000-119223200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr6:119217000-119225400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr6:119217000-119242200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:119217200-119218400	Enhancers	Primary B cells from cord blood	blood
35	chr6:119217200-119219400	Enhancers	Colon Smooth Muscle	Colon
36	chr6:119217400-119218200	Enhancers	Brain Anterior Caudate	brain
37	chr6:119217400-119218200	Enhancers	Brain Substantia Nigra	brain
38	chr6:119217400-119218200	Enhancers	Stomach Mucosa	stomach
39	chr6:119217400-119219000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:119217600-119218200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr6:119217600-119218200	Flanking Active TSS	Fetal Brain Female	brain
42	chr6:119217600-119218200	Active TSS	NHEK	skin
43	chr6:119217600-119218400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:119217600-119218400	Enhancers	Fetal Brain Male	brain
45	chr6:119217600-119218600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr6:119217600-119218600	Enhancers	Small Intestine	intestine
47	chr6:119217600-119219200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr6:119217600-119220200	Weak transcription	Brain Hippocampus Middle	brain
49	chr6:119217600-119221600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:119217600-119221800	Enhancers	Ovary	ovary

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