Variant report

Variant	rs542193072
Chromosome Location	chr13:50123749-50123750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50123244..50123850-chr13:50179491..50180112,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1036135	chr13:50071310-50183103	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv541770	chr13:50071310-50183103	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1054965	chr13:50102730-50251347	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv541771	chr13:50102730-50251347	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv2763020	chr13:50105055-50192259	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1052801	chr13:50116407-50144995	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv561616	chr13:50120435-50190246	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv949162	chr13:50120985-50195882	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv3332094	chr13:50122301-50124199	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1046912	chr13:50122840-50189313	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
14	nsv1043902	chr13:50122840-50189999	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
15	esv2761789	chr13:50122852-50185910	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 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	chr13:50075000-50143800	Weak transcription	Small Intestine	intestine
2	chr13:50088400-50151000	Weak transcription	Psoas Muscle	Psoas
3	chr13:50088600-50134200	Weak transcription	Stomach Mucosa	stomach
4	chr13:50091400-50138800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:50094600-50141600	Weak transcription	Right Ventricle	heart
6	chr13:50097800-50135000	Weak transcription	Colonic Mucosa	Colon
7	chr13:50101600-50142800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr13:50104600-50143800	Weak transcription	Hela-S3	cervix
9	chr13:50106600-50133200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr13:50108600-50158800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:50110400-50134400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:50110600-50124800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr13:50110800-50126800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr13:50111400-50127600	Weak transcription	Fetal Heart	heart
15	chr13:50111600-50136600	Strong transcription	Dnd41	blood
16	chr13:50111800-50133200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:50112000-50135000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:50112200-50134200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr13:50112200-50138400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:50113200-50127200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:50114000-50125800	Strong transcription	Stomach Smooth Muscle	stomach
22	chr13:50114000-50126600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr13:50115000-50123800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr13:50115000-50132200	Weak transcription	Colon Smooth Muscle	Colon
25	chr13:50115000-50140400	Weak transcription	Fetal Brain Male	brain
26	chr13:50115200-50124600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr13:50115200-50124800	Weak transcription	Fetal Brain Female	brain
28	chr13:50115200-50132800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr13:50115200-50133200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr13:50115200-50135000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr13:50115200-50135600	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr13:50115200-50140400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr13:50115400-50124000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr13:50115400-50124400	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr13:50115400-50126200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr13:50115400-50130800	Weak transcription	NH-A	brain
37	chr13:50115400-50131200	Weak transcription	HSMM	muscle
38	chr13:50115400-50133200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr13:50115400-50141200	Weak transcription	K562	blood
40	chr13:50115400-50143200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr13:50115600-50129200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr13:50115600-50134800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr13:50115800-50125800	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr13:50116000-50126200	Weak transcription	Fetal Kidney	kidney
45	chr13:50116000-50127600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr13:50116800-50123800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr13:50117000-50125800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr13:50117400-50125400	Strong transcription	Primary B cells from peripheral blood	blood
49	chr13:50117800-50125800	Strong transcription	Primary B cells from cord blood	blood
50	chr13:50117800-50126600	Strong transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links