Variant report

Variant	rs578146135
Chromosome Location	chr7:66385438-66385439
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	chr7:66385303-66386473	Raji	blood:	n/a	n/a
2	EP300	chr7:66385216-66386324	K562	blood:	n/a	chr7:66386196-66386210 chr7:66386195-66386209 chr7:66386052-66386065
3	MXI1	chr7:66385366-66387581	GM12878	blood:	n/a	n/a
4	MXI1	chr7:66384825-66387700	SK-N-SH	brain:	n/a	n/a
5	FOS	chr7:66385287-66385557	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT5A	chr7:66385100-66385604	GM12878	blood:	n/a	n/a
7	ZNF274	chr7:66385133-66385787	K562	blood:	n/a	n/a
8	STAT5A	chr7:66384847-66386322	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:66385181-66385554	MCF10A-Er-Src	breast:	n/a	n/a
10	MAX	chr7:66385420-66386291	K562	blood:	n/a	n/a
11	STAT5A	chr7:66384243-66386386	K562	blood:	n/a	chr7:66384567-66384574
12	MAX	chr7:66385394-66387520	NB4	blood:	n/a	chr7:66386351-66386360
13	MYC	chr7:66385002-66386297	MCF10A-Er-Src	breast:	n/a	n/a
14	CBX3	chr7:66385281-66386301	K562	blood:	n/a	n/a
15	FOS	chr7:66385307-66385593	MCF10A-Er-Src	breast:	n/a	n/a
16	GTF3C2	chr7:66385390-66386011	Hela-S3	cervix:	n/a	n/a
17	MYC	chr7:66385273-66387540	K562	blood:	n/a	chr7:66386351-66386360
18	IRF1	chr7:66384370-66386341	K562	blood:	n/a	chr7:66384591-66384600 chr7:66385626-66385637 chr7:66385627-66385637
19	POLR2A	chr7:66385348-66385529	GM12878	blood:	n/a	n/a
20	TAL1	chr7:66385349-66386331	K562	blood:	n/a	n/a
21	JUND	chr7:66385373-66385573	HepG2	liver:	n/a	chr7:66385443-66385454
22	NR2F2	chr7:66385055-66386400	K562	blood:	n/a	chr7:66386156-66386171
23	MYC	chr7:66385296-66386427	K562	blood:	n/a	chr7:66386351-66386360
24	GATA3	chr7:66385298-66385490	SH-SY5Y	brain:	n/a	n/a
25	FOS	chr7:66385309-66385585	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:66308191..66311276-chr7:66384066..66387492,7	MCF-7	breast:
2	chr7:66385169..66388074-chr7:66392898..66397062,6	MCF-7	breast:
3	chr7:66384595..66388317-chr7:66459135..66463010,5	K562	blood:
4	chr7:66308297..66310076-chr7:66385373..66388075,2	K562	blood:
5	chr7:66378566..66381625-chr7:66385153..66387745,3	MCF-7	breast:
6	chr7:66379191..66382749-chr7:66384574..66388642,5	K562	blood:
7	chr7:66385188..66388317-chr7:66459133..66463010,3	K562	blood:
8	chr7:66312126..66314998-chr7:66385416..66387725,2	MCF-7	breast:
9	chr7:66384799..66388848-chr7:66389441..66396879,12	K562	blood:
10	chr7:66385080..66386736-chr7:66393610..66396808,3	MCF-7	breast:
11	chr1:228353195..228353730-chr7:66385183..66386076,2	NB4	blood:

Variant related genes	Relation type
TMEM248	TF binding region
ENSG00000232546	Chromatin interaction
ENSG00000203684	Chromatin interaction
ENSG00000179131	Chromatin interaction
ENSG00000230583	Chromatin interaction
ENSG00000106609	Chromatin interaction
ENSG00000126524	Chromatin interaction
ENSG00000198874	Chromatin interaction
ENSG00000181873	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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	esv3324611	chr7:66383817-66388015	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66366400-66385600	Weak transcription	Brain Substantia Nigra	brain
2	chr7:66369000-66385600	Weak transcription	Ovary	ovary
3	chr7:66371200-66385600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:66384800-66385600	Flanking Active TSS	Dnd41	blood
5	chr7:66384800-66387400	Active TSS	NHDF-Ad	bronchial
6	chr7:66385000-66385600	Enhancers	Brain Anterior Caudate	brain
7	chr7:66385000-66385600	Enhancers	Brain Hippocampus Middle	brain
8	chr7:66385000-66387000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:66385000-66387200	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr7:66385000-66388000	Active TSS	A549	lung
11	chr7:66385200-66385600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr7:66385200-66385600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:66385200-66385600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr7:66385200-66385600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr7:66385200-66385600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:66385200-66385600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr7:66385200-66385600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:66385200-66385600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:66385200-66385600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:66385200-66385600	Enhancers	Pancreas	Pancrea
21	chr7:66385200-66385600	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr7:66385200-66385600	Flanking Active TSS	GM12878-XiMat	blood
23	chr7:66385200-66385600	Flanking Active TSS	Hela-S3	cervix
24	chr7:66385200-66385600	Flanking Active TSS	NHEK	skin
25	chr7:66385200-66385800	Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr7:66385200-66386000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr7:66385200-66386800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:66385200-66387000	Active TSS	H1 Cell Line	embryonic stem cell
29	chr7:66385200-66387000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:66385200-66387000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:66385200-66387000	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr7:66385200-66387000	Active TSS	Fetal Brain Female	brain
33	chr7:66385200-66387000	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr7:66385200-66387000	Active TSS	Stomach Smooth Muscle	stomach
35	chr7:66385200-66387200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:66385200-66387200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:66385200-66387200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:66385200-66387200	Active TSS	Fetal Kidney	kidney
39	chr7:66385200-66387200	Active TSS	HMEC	breast
40	chr7:66385200-66387800	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr7:66385400-66385600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr7:66385400-66385600	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr7:66385400-66385600	Active TSS	Primary B cells from cord blood	blood
44	chr7:66385400-66385600	Enhancers	Primary B cells from peripheral blood	blood
45	chr7:66385400-66385600	Enhancers	Primary T cells from cord blood	blood
46	chr7:66385400-66385600	Enhancers	Primary hematopoietic stem cells	blood
47	chr7:66385400-66385600	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr7:66385400-66385600	Active TSS	Liver	Liver
49	chr7:66385400-66385600	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr7:66385400-66385600	Enhancers	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links