Variant report

Variant	rs531067582
Chromosome Location	chr19:40758220-40758221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40757204..40758764-chr19:40774239..40776253,2	K562	blood:
2	chr19:40749209..40752062-chr19:40757715..40759395,2	K562	blood:
3	chr19:40757637..40759923-chr19:40784996..40787780,2	K562	blood:

Variant related genes	Relation type
ENSG00000105221	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	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1062755	chr19:40737463-40758235	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1059094	chr19:40745377-40758235	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1064502	chr19:40758049-40781360	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40732800-40759000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:40738000-40763800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr19:40739200-40758400	Strong transcription	Fetal Intestine Small	intestine
4	chr19:40741600-40761000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:40743200-40760800	Weak transcription	HMEC	breast
6	chr19:40745800-40760800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:40746400-40760800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:40747200-40759400	Weak transcription	Hela-S3	cervix
9	chr19:40747200-40760800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:40747400-40759200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr19:40748400-40758400	Weak transcription	Osteobl	bone
12	chr19:40748400-40761000	Weak transcription	Small Intestine	intestine
13	chr19:40748600-40759400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr19:40748800-40760800	Weak transcription	NH-A	brain
15	chr19:40749000-40759000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:40749400-40759200	Weak transcription	HUVEC	blood vessel
17	chr19:40750000-40763800	Strong transcription	Thymus	Thymus
18	chr19:40750000-40764000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr19:40751000-40761800	Weak transcription	Fetal Kidney	kidney
20	chr19:40751200-40758600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr19:40751200-40761600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr19:40751200-40771200	Weak transcription	Fetal Heart	heart
23	chr19:40751600-40758400	Weak transcription	HSMMtube	muscle
24	chr19:40751800-40758400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:40751800-40763600	Strong transcription	Fetal Stomach	stomach
26	chr19:40752000-40759000	Weak transcription	NHDF-Ad	bronchial
27	chr19:40752600-40763400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr19:40752800-40758400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:40752800-40763400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr19:40753000-40772000	Weak transcription	Fetal Brain Male	brain
31	chr19:40753200-40762800	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr19:40753200-40763000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:40753200-40763600	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr19:40753200-40763800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr19:40753200-40764600	Strong transcription	Primary T cells from cord blood	blood
36	chr19:40753400-40758400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:40753600-40763400	Strong transcription	Fetal Thymus	thymus
38	chr19:40753600-40763800	Strong transcription	Dnd41	blood
39	chr19:40753800-40763400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:40753800-40763800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr19:40753800-40764400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:40754000-40763000	Strong transcription	Brain Germinal Matrix	brain
43	chr19:40754200-40759800	Strong transcription	Fetal Muscle Leg	muscle
44	chr19:40754200-40760800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr19:40754400-40758600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr19:40754600-40759000	Weak transcription	Brain Anterior Caudate	brain
47	chr19:40754600-40759000	Weak transcription	NHEK	skin
48	chr19:40754600-40759600	Weak transcription	Colon Smooth Muscle	Colon
49	chr19:40755000-40763200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:40755000-40763800	Strong transcription	Placenta	Placenta

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