Variant report

Variant	rs554290408
Chromosome Location	chr13:30693518-30693519
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30687700..30689739-chr13:30690747..30693968,3	MCF-7	breast:
2	chr13:30683338..30685506-chr13:30693014..30696213,3	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv2761782	chr13:30692819-30695797	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30689600-30693600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr13:30689600-30693600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr13:30689600-30697400	Weak transcription	Aorta	Aorta
4	chr13:30689600-30697800	Weak transcription	Spleen	Spleen
5	chr13:30689800-30693800	Weak transcription	Primary B cells from cord blood	blood
6	chr13:30690200-30693600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr13:30690200-30699800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:30690800-30693600	Weak transcription	GM12878-XiMat	blood
9	chr13:30691200-30699400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr13:30692400-30693600	Enhancers	Colon Smooth Muscle	Colon
11	chr13:30692400-30696400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:30692400-30696600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr13:30692600-30693600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:30692600-30693600	Enhancers	Rectal Smooth Muscle	rectum
15	chr13:30692600-30695000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr13:30692600-30695400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr13:30692600-30696400	Enhancers	Thymus	Thymus
18	chr13:30692800-30693600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr13:30692800-30693600	Enhancers	NHEK	skin
20	chr13:30692800-30696000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr13:30692800-30696600	Enhancers	Fetal Thymus	thymus
22	chr13:30692800-30697000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr13:30693000-30694200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:30693000-30694400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr13:30693000-30694600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:30693000-30694600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr13:30693000-30696400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr13:30693200-30694400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr13:30693200-30694600	Enhancers	Placenta	Placenta
30	chr13:30693200-30694600	Enhancers	HSMM	muscle
31	chr13:30693200-30694800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr13:30693200-30694800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr13:30693200-30696600	Enhancers	Primary hematopoietic stem cells	blood
34	chr13:30693200-30697200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr13:30693400-30693600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:30693400-30693600	Bivalent Enhancer	NHLF	lung
37	chr13:30693400-30693800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:30693400-30693800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr13:30693400-30693800	Enhancers	Brain Hippocampus Middle	brain
40	chr13:30693400-30694000	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr13:30693400-30694000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr13:30693400-30694000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr13:30693400-30694200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr13:30693400-30694200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr13:30693400-30694200	Enhancers	Fetal Intestine Small	intestine
46	chr13:30693400-30694200	Flanking Active TSS	HMEC	breast
47	chr13:30693400-30694200	Flanking Active TSS	Osteobl	bone
48	chr13:30693400-30694400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:30693400-30694400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr13:30693400-30694400	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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