Variant report

Variant	rs118124843
Chromosome Location	chr6:30887465-30887466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr6:30887261-30887485	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30860099..30863681-chr6:30886781..30890707,3	K562	blood:
2	chr6:30874031..30876407-chr6:30886352..30887855,2	MCF-7	breast:
3	chr6:30882042..30885135-chr6:30886350..30889389,4	MCF-7	breast:
4	chr6:30887250..30888956-chr6:30920094..30923079,2	MCF-7	breast:
5	chr6:30881968..30885056-chr6:30885339..30888267,3	MCF-7	breast:

No data

Variant related genes	Relation type
VARS2	TF binding region
ENSG00000264731	Chromatin interaction
ENSG00000213780	Chromatin interaction
ENSG00000233529	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000204580	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1031677	chr6:30857542-30972865	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv525438	chr6:30864829-30933975	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv523346	chr6:30882513-30893941	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
9	nsv884126	chr6:30886350-30895990	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30882800-30890200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:30882800-30890200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:30883000-30889000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:30883200-30888400	Weak transcription	Small Intestine	intestine
5	chr6:30883400-30891200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:30883400-30894400	Weak transcription	Hela-S3	cervix
7	chr6:30883400-30895800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:30883400-30897000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr6:30883600-30890800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr6:30883600-30892000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:30883800-30889800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:30883800-30889800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:30883800-30890200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:30883800-30890400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:30883800-30894000	Weak transcription	Fetal Kidney	kidney
16	chr6:30883800-30894200	Weak transcription	Psoas Muscle	Psoas
17	chr6:30883800-30895200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:30883800-30895800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:30883800-30896600	Strong transcription	Fetal Muscle Leg	muscle
20	chr6:30884000-30888200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:30884000-30888400	Weak transcription	NHDF-Ad	bronchial
22	chr6:30884000-30889600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:30884000-30889600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:30884000-30890000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:30884000-30890200	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr6:30884000-30891600	Strong transcription	Colon Smooth Muscle	Colon
27	chr6:30884000-30894800	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr6:30884000-30894800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr6:30884000-30895000	Strong transcription	Placenta	Placenta
30	chr6:30884000-30895800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr6:30884000-30896000	Strong transcription	Fetal Stomach	stomach
32	chr6:30884000-30896200	Strong transcription	Fetal Thymus	thymus
33	chr6:30884000-30897000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:30884200-30889800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:30884200-30893800	Weak transcription	Fetal Brain Male	brain
36	chr6:30884200-30894000	Weak transcription	HSMM	muscle
37	chr6:30884200-30894800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr6:30884200-30894800	Strong transcription	Fetal Intestine Large	intestine
39	chr6:30884200-30895000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr6:30884200-30895400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr6:30884200-30895600	Strong transcription	Fetal Intestine Small	intestine
42	chr6:30884200-30896200	Strong transcription	Fetal Brain Female	brain
43	chr6:30884400-30890400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:30884400-30890600	Strong transcription	GM12878-XiMat	blood
45	chr6:30884400-30894600	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr6:30884400-30894600	Strong transcription	Stomach Smooth Muscle	stomach
47	chr6:30884400-30894800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr6:30884400-30894800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:30884400-30894800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr6:30884400-30894800	Strong transcription	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links