Variant report

Variant	rs546023898
Chromosome Location	chr6:149772317-149772318
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	TFAP2C	chr6:149771572-149773122	Hela-S3	cervix:	n/a	n/a
2	SMARCB1	chr6:149771406-149773213	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr6:149770891-149772320	GM12878	blood:	n/a	n/a
4	POLR2A	chr6:149771989-149773037	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149769726..149773853-chr6:149775332..149778151,3	K562	blood:

Variant related genes	Relation type
ZC3H12D	TF binding region
ENSG00000178199	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv470866	chr6:149744632-149806552	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv5533	chr6:149748047-149793072	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv464076	chr6:149755695-149798835	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv604846	chr6:149755695-149798835	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3355637	chr6:149769659-149774457	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3374188	chr6:149770709-149773207	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3358166	chr6:149771284-149774132	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149766600-149773000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:149767400-149772800	Weak transcription	HepG2	liver
3	chr6:149768400-149779400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:149769600-149782800	Strong transcription	Primary B cells from peripheral blood	blood
5	chr6:149769600-149787200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:149769800-149779800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr6:149770000-149773000	Weak transcription	Primary B cells from cord blood	blood
8	chr6:149770000-149779600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:149770000-149785200	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:149771000-149773400	Enhancers	Fetal Heart	heart
11	chr6:149771400-149773200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr6:149771400-149773200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr6:149771400-149773400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr6:149771400-149773400	Active TSS	Rectal Smooth Muscle	rectum
15	chr6:149771600-149772400	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr6:149771600-149772600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:149771600-149772800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:149771600-149772800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:149771600-149772800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:149771600-149772800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
21	chr6:149771600-149772800	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr6:149771600-149772800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
23	chr6:149771600-149773000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr6:149771600-149773000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:149771600-149773000	Bivalent/Poised TSS	Fetal Brain Female	brain
26	chr6:149771600-149773200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr6:149771600-149773200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr6:149771600-149773200	Flanking Active TSS	Colonic Mucosa	Colon
29	chr6:149771600-149773200	Bivalent Enhancer	Fetal Brain Male	brain
30	chr6:149771600-149773400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr6:149771600-149778000	Weak transcription	GM12878-XiMat	blood
32	chr6:149771800-149772400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:149771800-149772400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr6:149771800-149772400	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:149771800-149772400	Flanking Active TSS	Lung	lung
36	chr6:149771800-149772400	Flanking Active TSS	Psoas Muscle	Psoas
37	chr6:149771800-149772400	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr6:149771800-149772600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:149771800-149772600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
40	chr6:149771800-149772600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:149771800-149772600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr6:149771800-149772600	Flanking Active TSS	Ovary	ovary
43	chr6:149771800-149772600	Flanking Active TSS	Pancreas	Pancrea
44	chr6:149771800-149772600	Active TSS	Small Intestine	intestine
45	chr6:149771800-149772800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chr6:149771800-149772800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:149771800-149772800	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr6:149771800-149772800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
49	chr6:149771800-149772800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:149771800-149772800	Active TSS	Aorta	Aorta

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