Variant report

Variant	rs548998555
Chromosome Location	chr13:49656679-49656680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49656046..49658921-chr13:49658986..49660902,2	K562	blood:
2	chr13:49549529..49551263-chr13:49654719..49657031,2	MCF-7	breast:
3	chr13:49638488..49641005-chr13:49654158..49656722,2	K562	blood:

Variant related genes	Relation type
ENSG00000102531	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv455882	chr13:49531551-49679157	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv561593	chr13:49531551-49679157	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv976274	chr13:49655803-49666815	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1035	chr13:49656225-49700371	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49582200-49659000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr13:49601800-49660600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:49608800-49658800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr13:49627200-49656800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:49627400-49656800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:49627400-49672400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr13:49628800-49657000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr13:49629000-49665600	Weak transcription	Lung	lung
9	chr13:49629600-49665400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:49630200-49656800	Weak transcription	Aorta	Aorta
11	chr13:49630400-49664000	Weak transcription	Fetal Intestine Small	intestine
12	chr13:49632200-49664800	Weak transcription	Fetal Lung	lung
13	chr13:49635000-49664400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr13:49636800-49667800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr13:49639600-49656800	Weak transcription	Gastric	stomach
16	chr13:49639600-49656800	Weak transcription	Ovary	ovary
17	chr13:49639600-49687200	Weak transcription	Pancreas	Pancrea
18	chr13:49640600-49683800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr13:49641200-49663200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr13:49641800-49671600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr13:49643800-49657000	Weak transcription	HSMM	muscle
22	chr13:49645000-49671000	Weak transcription	Small Intestine	intestine
23	chr13:49646400-49660800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:49648800-49659000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr13:49649000-49658600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr13:49649400-49684200	Weak transcription	Right Ventricle	heart
27	chr13:49649600-49656800	Weak transcription	NHLF	lung
28	chr13:49649600-49660400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr13:49649800-49657000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:49649800-49657000	Weak transcription	K562	blood
31	chr13:49649800-49671600	Weak transcription	Brain Hippocampus Middle	brain
32	chr13:49650200-49658000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr13:49650400-49658600	Weak transcription	Colon Smooth Muscle	Colon
34	chr13:49651200-49658400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr13:49651400-49656800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr13:49651400-49656800	Weak transcription	Hela-S3	cervix
37	chr13:49651400-49657000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr13:49651400-49660600	Weak transcription	Adipose Nuclei	Adipose
39	chr13:49651400-49665600	Weak transcription	Fetal Thymus	thymus
40	chr13:49651400-49666800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr13:49651600-49656800	Weak transcription	Liver	Liver
42	chr13:49651600-49659000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr13:49651600-49663800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr13:49651600-49670200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:49651600-49670800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr13:49651800-49656800	Weak transcription	Fetal Intestine Large	intestine
47	chr13:49651800-49656800	Weak transcription	NH-A	brain
48	chr13:49651800-49664800	Weak transcription	Fetal Stomach	stomach
49	chr13:49651800-49665000	Weak transcription	Fetal Muscle Leg	muscle
50	chr13:49651800-49671000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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