Variant report

Variant	rs530237210
Chromosome Location	chr13:110423191-110423192
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110421522..110423213-chr13:110437049..110440164,3	K562	blood:

Variant related genes	Relation type
ENSG00000185950	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv826788	chr13:110381750-110469062	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv826789	chr13:110387268-110473524	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv826790	chr13:110395165-110463032	Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv826791	chr13:110397733-110462553	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv826792	chr13:110398678-110462209	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1047427	chr13:110412864-110446417	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv826793	chr13:110423187-110448628	Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110397000-110428800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr13:110397200-110430400	Weak transcription	NHLF	lung
3	chr13:110401800-110430800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:110403200-110430600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr13:110406200-110429400	Weak transcription	Primary B cells from cord blood	blood
6	chr13:110407400-110423400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:110408600-110423800	Weak transcription	Placenta	Placenta
8	chr13:110408600-110424400	Weak transcription	Spleen	Spleen
9	chr13:110408600-110430400	Weak transcription	Colonic Mucosa	Colon
10	chr13:110408800-110423600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr13:110409000-110431200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr13:110409400-110429800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr13:110409400-110430200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr13:110413400-110430400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr13:110413600-110430800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr13:110414000-110424400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr13:110414400-110428800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:110415000-110428800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:110416000-110430800	Weak transcription	Fetal Kidney	kidney
20	chr13:110417000-110432400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr13:110417200-110424600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr13:110417200-110430400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr13:110417200-110431600	Weak transcription	Fetal Muscle Leg	muscle
24	chr13:110417400-110425600	Weak transcription	NH-A	brain
25	chr13:110417400-110429400	Weak transcription	Small Intestine	intestine
26	chr13:110417400-110430200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr13:110417600-110424200	Weak transcription	Brain Germinal Matrix	brain
28	chr13:110417600-110430400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:110417600-110430400	Weak transcription	Thymus	Thymus
30	chr13:110417600-110430600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr13:110417800-110428800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr13:110417800-110428800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr13:110417800-110429400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr13:110417800-110430200	Weak transcription	Fetal Thymus	thymus
35	chr13:110418800-110425000	Enhancers	Brain Substantia Nigra	brain
36	chr13:110419000-110424200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:110419000-110424800	Enhancers	Brain Angular Gyrus	brain
38	chr13:110419000-110424800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr13:110419000-110425000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr13:110419200-110423200	Genic enhancers	Adipose Nuclei	Adipose
41	chr13:110419200-110424400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:110419200-110425000	Strong transcription	HSMMtube	muscle
43	chr13:110419200-110428000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr13:110419600-110425000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:110419600-110428600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr13:110419600-110429400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr13:110419600-110429400	Weak transcription	Fetal Brain Male	brain
48	chr13:110419600-110429600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr13:110419800-110424400	Weak transcription	Esophagus	oesophagus
50	chr13:110419800-110424400	Weak transcription	Psoas Muscle	Psoas

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