Variant report

Variant	rs547267227
Chromosome Location	chr13:30860487-30860488
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30859194..30861688-chr13:30861756..30863782,2	K562	blood:
2	chr13:30859379..30862261-chr13:30868087..30870616,2	K562	blood:
3	chr13:30859379..30862261-chr13:30868087..30870616,3	K562	blood:

Variant related genes	Relation type
ENSG00000215049	Chromatin interaction

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	nsv899962	chr13:30831422-30863235	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3407569	chr13:30859269-30861473	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	esv3500061	chr13:30859323-30861419	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	esv3500062	chr13:30859323-30861419	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30832200-30861000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr13:30832200-30863400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr13:30832200-30863800	Weak transcription	HSMMtube	muscle
4	chr13:30842400-30863800	Weak transcription	Ovary	ovary
5	chr13:30843000-30880200	Weak transcription	Fetal Stomach	stomach
6	chr13:30845200-30866200	Weak transcription	Small Intestine	intestine
7	chr13:30845600-30863400	Weak transcription	K562	blood
8	chr13:30847200-30876000	Weak transcription	Lung	lung
9	chr13:30847400-30860800	Weak transcription	Spleen	Spleen
10	chr13:30847400-30867800	Weak transcription	Right Ventricle	heart
11	chr13:30847400-30870200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr13:30848000-30862600	Weak transcription	HepG2	liver
13	chr13:30849000-30862800	Weak transcription	Fetal Heart	heart
14	chr13:30849600-30860800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:30849600-30862800	Weak transcription	Fetal Lung	lung
16	chr13:30849600-30866000	Weak transcription	Thymus	Thymus
17	chr13:30849800-30870200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr13:30850800-30862200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr13:30850800-30872000	Weak transcription	Primary B cells from cord blood	blood
20	chr13:30851000-30867400	Weak transcription	Primary T cells from cord blood	blood
21	chr13:30851600-30863600	Weak transcription	NHEK	skin
22	chr13:30851800-30874200	Weak transcription	HUVEC	blood vessel
23	chr13:30852200-30865200	Weak transcription	Fetal Intestine Large	intestine
24	chr13:30852400-30863400	Weak transcription	Brain Angular Gyrus	brain
25	chr13:30853000-30862800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr13:30853800-30862200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:30853800-30863400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr13:30854000-30863200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:30854000-30863400	Weak transcription	NHLF	lung
30	chr13:30854000-30866200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr13:30854000-30870200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr13:30854000-30876800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr13:30854200-30863200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr13:30854200-30863600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr13:30854200-30863800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:30854200-30863800	Weak transcription	Adipose Nuclei	Adipose
37	chr13:30854400-30862000	Weak transcription	Colon Smooth Muscle	Colon
38	chr13:30854400-30863600	Weak transcription	NH-A	brain
39	chr13:30855200-30877200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr13:30856000-30877400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr13:30856200-30863600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr13:30856600-30862000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr13:30856600-30863600	Weak transcription	NHDF-Ad	bronchial
44	chr13:30856800-30862200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr13:30856800-30863400	Weak transcription	Osteobl	bone
46	chr13:30856800-30863800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:30856800-30864400	Weak transcription	Fetal Intestine Small	intestine
48	chr13:30856800-30866000	Weak transcription	Fetal Thymus	thymus
49	chr13:30856800-30867600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:30856800-30874600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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