Variant report

Variant	rs9551909
Chromosome Location	chr13:30970247-30970248
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30963591..30965165-chr13:30969250..30971365,2	MCF-7	breast:
2	chr13:30968958..30971854-chr13:30981722..30984094,2	MCF-7	breast:
3	chr13:30968472..30970868-chr13:30994775..30998357,4	MCF-7	breast:
4	chr1:35330757..35333004-chr13:30969945..30972502,2	MCF-7	breast:
5	chr13:30969352..30972567-chr13:31037950..31040897,3	MCF-7	breast:
6	chr13:30968769..30970411-chr13:31191447..31193805,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000189403	Chromatin interaction
ENSG00000132952	Chromatin interaction
ENSG00000225039	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530602	chr13:30911025-31404272	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv2363988	chr13:30969969-30970465	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	esv3373911	chr13:30970037-30970397	Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
4	esv3426189	chr13:30970061-30970424	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	esv3488885	chr13:30970077-30970347	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
6	esv3488887	chr13:30970077-30970347	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
7	esv3508541	chr13:30970097-30970358	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
8	esv3508552	chr13:30970097-30970358	Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30968600-30970400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr13:30968600-30970400	Active TSS	Osteobl	bone
3	chr13:30968600-30970800	Active TSS	Duodenum Mucosa	Duodenum
4	chr13:30968800-30970400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:30968800-30970400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:30968800-30970600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:30968800-30970600	Active TSS	A549	lung
8	chr13:30968800-30970800	Active TSS	Brain Anterior Caudate	brain
9	chr13:30968800-30970800	Active TSS	Brain Hippocampus Middle	brain
10	chr13:30969000-30970400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr13:30969000-30970400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:30969000-30970400	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr13:30969000-30970400	Flanking Active TSS	HUVEC	blood vessel
14	chr13:30969000-30970800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr13:30969200-30970400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr13:30969200-30970400	Active TSS	HMEC	breast
17	chr13:30969400-30970400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr13:30969400-30970400	Active TSS	HepG2	liver
19	chr13:30969400-30970600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr13:30969400-30970800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr13:30969800-30970400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr13:30969800-30970600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:30970000-30970400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr13:30970000-30970400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:30970000-30970400	Weak transcription	Stomach Mucosa	stomach
26	chr13:30970000-30970600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr13:30970000-30970800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr13:30970000-30970800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr13:30970000-30970800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr13:30970000-30970800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr13:30970000-30970800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr13:30970000-30970800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr13:30970000-30970800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr13:30970000-30970800	Enhancers	K562	blood
35	chr13:30970000-30971000	Enhancers	Primary T cells fromperipheralblood	blood
36	chr13:30970000-30971000	Enhancers	Fetal Thymus	thymus
37	chr13:30970000-30971400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr13:30970000-30971400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr13:30970000-30972600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr13:30970000-30976000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr13:30970000-30982200	Weak transcription	Esophagus	oesophagus
42	chr13:30970200-30970400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr13:30970200-30970400	Weak transcription	Aorta	Aorta
44	chr13:30970200-30970400	Active TSS	Liver	Liver
45	chr13:30970200-30970400	Active TSS	NHEK	skin
46	chr13:30970200-30970600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr13:30970200-30970600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr13:30970200-30970600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr13:30970200-30970600	Weak transcription	Fetal Kidney	kidney
50	chr13:30970200-30970800	Enhancers	HUES48 Cell Line	embryonic stem cell

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