Variant report

Variant	rs114639409
Chromosome Location	chr13:52302761-52302762
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52300204..52302832-chr13:52303921..52305515,2	MCF-7	breast:
2	chr13:52025547..52028622-chr13:52302243..52304056,3	MCF-7	breast:
3	chr13:52202753..52205414-chr13:52302495..52304288,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224892	Chromatin interaction
ENSG00000236778	Chromatin interaction
ENSG00000102786	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832612	chr13:52176983-52362525	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv933424	chr13:52293482-52507732	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv455884	chr13:52302630-52405251	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv561644	chr13:52302630-52405251	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52249400-52307600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr13:52279400-52303000	Weak transcription	Lung	lung
3	chr13:52279600-52304000	Weak transcription	Esophagus	oesophagus
4	chr13:52288400-52322200	Weak transcription	K562	blood
5	chr13:52288600-52303000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr13:52289400-52305800	Weak transcription	Fetal Kidney	kidney
7	chr13:52290000-52307600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr13:52291400-52303000	Weak transcription	Fetal Stomach	stomach
9	chr13:52292200-52304400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr13:52292400-52304400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:52293200-52303200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:52293600-52307600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr13:52294200-52304400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr13:52294600-52302800	Weak transcription	HMEC	breast
15	chr13:52295600-52304600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr13:52296000-52303000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr13:52296000-52303000	Weak transcription	Fetal Muscle Leg	muscle
18	chr13:52296000-52303000	Weak transcription	Spleen	Spleen
19	chr13:52296000-52304400	Weak transcription	Right Ventricle	heart
20	chr13:52296000-52304400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr13:52296000-52307600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr13:52296200-52303000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr13:52296200-52303000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr13:52296200-52303600	Weak transcription	Aorta	Aorta
25	chr13:52296200-52303600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr13:52296400-52303200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:52296400-52322200	Weak transcription	Fetal Heart	heart
28	chr13:52297000-52311800	Weak transcription	GM12878-XiMat	blood
29	chr13:52297400-52305800	Strong transcription	Primary B cells from cord blood	blood
30	chr13:52298000-52304000	Weak transcription	Fetal Brain Male	brain
31	chr13:52298000-52322200	Weak transcription	Fetal Brain Female	brain
32	chr13:52298400-52302800	Strong transcription	NHEK	skin
33	chr13:52298400-52307600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr13:52298600-52303000	Weak transcription	Fetal Intestine Small	intestine
35	chr13:52298600-52303600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr13:52299600-52302800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:52299600-52302800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr13:52300000-52302800	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr13:52300000-52303000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr13:52300000-52303000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr13:52300000-52303200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr13:52300000-52303200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:52300000-52303600	Strong transcription	HepG2	liver
44	chr13:52300000-52303800	Strong transcription	Primary hematopoietic stem cells	blood
45	chr13:52300000-52305200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr13:52300000-52305200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr13:52300200-52303200	Genic enhancers	Osteobl	bone
48	chr13:52300200-52303400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr13:52300200-52305400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr13:52300200-52306400	Enhancers	Liver	Liver

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