Variant report

Variant	rs16935602
Chromosome Location	chr11:18637852-18637853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18635208..18638912-chr11:18654317..18656685,3	MCF-7	breast:
2	chr11:18629872..18633193-chr11:18634242..18638507,6	K562	blood:
3	chr11:18635938..18638203-chr11:18650353..18652187,2	MCF-7	breast:
4	chr11:18632328..18634710-chr11:18635963..18638562,2	MCF-7	breast:
5	chr11:18608861..18610567-chr11:18636047..18638073,2	MCF-7	breast:
6	chr11:18629851..18633818-chr11:18636242..18638829,5	K562	blood:

Variant related genes	Relation type
ENSG00000179119	Chromatin interaction
ENSG00000151116	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16935609	0.85[AMR][1000 genomes]
rs58804032	0.85[AMR][1000 genomes]
rs58838170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58988307	0.85[AMR][1000 genomes]
rs61424905	0.85[AMR][1000 genomes]
rs7110125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110470	0.85[AMR][1000 genomes]
rs73424445	0.85[AMR][1000 genomes]
rs73424447	0.85[AMR][1000 genomes]
rs7936497	0.85[AMR][1000 genomes]
rs7936520	0.85[AMR][1000 genomes]
rs7936762	0.94[AFR][1000 genomes]
rs7938645	0.85[AMR][1000 genomes]
rs7942526	0.85[AMR][1000 genomes]
rs7951729	0.85[AMR][1000 genomes]
rs872872	0.85[AMR][1000 genomes]
rs872873	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS 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 miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv516413	chr11:18628418-18643758	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18612400-18638400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:18624800-18640800	Weak transcription	Right Atrium	heart
3	chr11:18625800-18638400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:18626200-18638000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:18626200-18638800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:18627400-18638000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:18627600-18638200	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr11:18627600-18638400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:18628600-18638200	Strong transcription	Liver	Liver
10	chr11:18628600-18638200	Strong transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:18628600-18638400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:18628600-18638600	Strong transcription	Placenta	Placenta
13	chr11:18628800-18638400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr11:18629000-18654400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:18629400-18638200	Strong transcription	Dnd41	blood
16	chr11:18629400-18638400	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:18629600-18638400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:18629800-18638000	Strong transcription	Fetal Intestine Large	intestine
19	chr11:18630400-18639800	Weak transcription	Fetal Heart	heart
20	chr11:18630800-18654800	Weak transcription	Psoas Muscle	Psoas
21	chr11:18633000-18638400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr11:18634800-18638000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:18635000-18638000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr11:18635000-18638400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:18635000-18638400	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr11:18635000-18638400	Strong transcription	HepG2	liver
27	chr11:18635600-18638400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:18635800-18638600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:18636000-18638000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:18636200-18638200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:18636200-18638600	Strong transcription	HSMM	muscle
32	chr11:18636400-18638000	Strong transcription	Brain Substantia Nigra	brain
33	chr11:18636400-18638200	Strong transcription	Brain Cingulate Gyrus	brain
34	chr11:18636600-18638400	Strong transcription	HUVEC	blood vessel
35	chr11:18636800-18643600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:18637000-18638600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
37	chr11:18637000-18638600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
38	chr11:18637000-18640400	Weak transcription	Stomach Mucosa	stomach
39	chr11:18637000-18645400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:18637000-18655200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:18637200-18638600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr11:18637200-18639400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr11:18637200-18639800	Weak transcription	Brain Germinal Matrix	brain
44	chr11:18637400-18638400	Genic enhancers	K562	blood
45	chr11:18637400-18638400	Genic enhancers	NHDF-Ad	bronchial
46	chr11:18637400-18638600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
47	chr11:18637400-18639400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr11:18637400-18639600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:18637400-18640000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr11:18637400-18640000	Weak transcription	Fetal Brain Female	brain

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