Variant report

Variant	rs567911598
Chromosome Location	chr7:150055264-150055265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150055052..150056576-chr7:150057801..150059416,2	K562	blood:
2	chr7:150047669..150050578-chr7:150054703..150056405,2	MCF-7	breast:
3	chr7:150009132..150011651-chr7:150053831..150057388,3	K562	blood:
4	chr7:150019173..150023075-chr7:150052530..150058157,7	K562	blood:

Variant related genes	Relation type
ENSG00000106526	Chromatin interaction
ENSG00000127399	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv889453	chr7:150009838-150104410	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv889454	chr7:150009838-150115183	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv889455	chr7:150013393-150104410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv889456	chr7:150013393-150115183	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
9	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	nsv889457	chr7:150020295-150104410	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
11	nsv889458	chr7:150020295-150115183	Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
12	nsv521407	chr7:150020295-150118590	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
13	nsv465211	chr7:150035526-150104410	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
14	nsv608991	chr7:150035526-150104410	Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
15	nsv889459	chr7:150041610-150071464	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	nsv608992	chr7:150045910-150115183	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
17	esv3393415	chr7:150055019-150058517	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv3424871	chr7:150055219-150058517	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150039200-150065000	Weak transcription	Right Atrium	heart
2	chr7:150044000-150058000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:150051200-150056600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:150052000-150061000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr7:150052200-150056600	Enhancers	Primary hematopoietic stem cells	blood
6	chr7:150053000-150056400	Weak transcription	Fetal Kidney	kidney
7	chr7:150053000-150058000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:150053000-150058400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:150053200-150065000	Enhancers	Fetal Thymus	thymus
10	chr7:150053400-150056400	Enhancers	Primary T cells from cord blood	blood
11	chr7:150053400-150056400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:150053400-150056600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr7:150053800-150055400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:150053800-150055400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:150053800-150055400	Enhancers	HSMMtube	muscle
16	chr7:150053800-150055600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:150053800-150056800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr7:150054200-150055400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:150054200-150056800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:150054400-150055400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr7:150054400-150055400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:150054600-150055400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:150054600-150055400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:150054600-150055600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:150054600-150055800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:150054600-150055800	Enhancers	HMEC	breast
27	chr7:150054600-150057800	Enhancers	Thymus	Thymus
28	chr7:150054800-150055400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:150054800-150055400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:150054800-150055400	Flanking Active TSS	K562	blood
31	chr7:150054800-150056000	Enhancers	GM12878-XiMat	blood
32	chr7:150054800-150058600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:150055000-150055400	Weak transcription	Liver	Liver
34	chr7:150055000-150055800	Enhancers	HepG2	liver
35	chr7:150055000-150056000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:150055000-150056200	Weak transcription	Fetal Intestine Large	intestine
37	chr7:150055000-150057200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr7:150055000-150058800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr7:150055200-150055600	Enhancers	Dnd41	blood
40	chr7:150055200-150056400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr7:150055200-150056600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr7:150055200-150056800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:150055200-150057000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:150055200-150057200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr7:150055200-150057200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:150055200-150057200	Weak transcription	Gastric	stomach
47	chr7:150055200-150058400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:150055200-150058400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:150055200-150058600	Weak transcription	Placenta	Placenta
50	chr7:150055200-150059200	Weak transcription	Primary B cells from cord blood	blood

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