Variant report

Variant	rs558013891
Chromosome Location	chr7:6745445-6745446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr7:6745362-6746144	K562	blood:	n/a	n/a
2	TRIM28	chr7:6745354-6745958	K562	blood:	n/a	n/a
3	TEAD4	chr7:6745443-6745881	K562	blood:	n/a	n/a
4	MTA3	chr7:6745439-6746261	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6745224..6747442-chr7:6767898..6770902,3	MCF-7	breast:
2	chr7:6675962..6678642-chr7:6744432..6748032,4	MCF-7	breast:
3	chr7:6744871..6747873-chr7:6767656..6771321,4	K562	blood:
4	chr7:6700299..6703221-chr7:6744305..6746051,2	MCF-7	breast:
5	chr17:59484738..59486572-chr7:6745021..6746847,2	MCF-7	breast:
6	chr7:6628194..6631157-chr7:6744707..6746398,2	MCF-7	breast:
7	chr7:6676193..6679067-chr7:6744810..6746794,4	K562	blood:

No data

Variant related genes	Relation type
ZNF12	TF binding region
PMS2CL	TF binding region
ENSG00000121068	Chromatin interaction
ENSG00000232581	Chromatin interaction
ENSG00000187953	Chromatin interaction
ENSG00000205903	Chromatin interaction
ENSG00000146576	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	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
4	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv887439	chr7:6736332-6791749	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1015646	chr7:6738483-6779270	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv887440	chr7:6743097-6820508	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv8038	chr7:6744717-6748111	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv887441	chr7:6744957-6919214	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr7:6739400-6745600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:6742000-6745600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:6743800-6745600	Weak transcription	Aorta	Aorta
4	chr7:6744400-6746000	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr7:6744400-6746200	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr7:6744600-6745600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr7:6744600-6745600	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr7:6744600-6745800	Flanking Active TSS	Brain Cingulate Gyrus	brain
9	chr7:6744600-6747200	Active TSS	Right Ventricle	heart
10	chr7:6744800-6745600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:6744800-6745600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:6744800-6745600	Enhancers	Esophagus	oesophagus
13	chr7:6744800-6745600	Flanking Active TSS	Fetal Heart	heart
14	chr7:6744800-6745600	Enhancers	Gastric	stomach
15	chr7:6744800-6745600	Enhancers	Pancreas	Pancrea
16	chr7:6744800-6745600	Enhancers	Small Intestine	intestine
17	chr7:6744800-6745600	Enhancers	Spleen	Spleen
18	chr7:6744800-6745800	Flanking Active TSS	Brain Angular Gyrus	brain
19	chr7:6744800-6745800	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr7:6744800-6745800	Flanking Active TSS	Brain Substantia Nigra	brain
21	chr7:6744800-6745800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr7:6744800-6746000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:6744800-6746800	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr7:6744800-6747200	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr7:6745000-6745600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:6745000-6745600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:6745000-6745600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:6745000-6745600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr7:6745000-6745600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:6745000-6745600	Flanking Active TSS	Fetal Brain Female	brain
31	chr7:6745000-6745800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr7:6745000-6745800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:6745000-6745800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr7:6745000-6745800	Flanking Active TSS	Thymus	Thymus
35	chr7:6745000-6746000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:6745000-6746000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr7:6745000-6746200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr7:6745000-6746800	Active TSS	Stomach Mucosa	stomach
39	chr7:6745000-6746800	Active TSS	GM12878-XiMat	blood
40	chr7:6745000-6746800	Active TSS	HMEC	breast
41	chr7:6745000-6747000	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr7:6745000-6747000	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr7:6745000-6747000	Active TSS	Fetal Intestine Large	intestine
44	chr7:6745000-6747000	Active TSS	Stomach Smooth Muscle	stomach
45	chr7:6745000-6747200	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr7:6745000-6747200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:6745000-6747200	Active TSS	Colonic Mucosa	Colon
48	chr7:6745000-6747200	Active TSS	Fetal Kidney	kidney
49	chr7:6745000-6747200	Active TSS	Ovary	ovary
50	chr7:6745000-6747200	Active TSS	Right Atrium	heart

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