Variant report

Variant	rs542988908
Chromosome Location	chr19:40848983-40848984
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:40848541-40849332	K562	blood:	n/a	n/a
2	POLR2A	chr19:40848844-40849011	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:40848783-40849055	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40846573..40849159-chr19:40852803..40855284,3	K562	blood:
2	chr19:40787579..40789839-chr19:40846986..40849835,2	MCF-7	breast:
3	chr19:40825864..40828845-chr19:40848574..40850485,2	K562	blood:
4	chr19:40846921..40852460-chr19:40852861..40856555,6	K562	blood:

Variant related genes	Relation type
C19orf47	TF binding region
ENSG00000207281	TF binding region
ENSG00000160392	Chromatin interaction
ENSG00000105223	Chromatin interaction
ENSG00000105221	Chromatin interaction
ENSG00000207631	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	esv2754051	chr19:40848081-40863842	Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40822000-40851000	Strong transcription	Fetal Stomach	stomach
2	chr19:40824200-40849600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr19:40826600-40853000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:40832200-40852800	Weak transcription	NHDF-Ad	bronchial
5	chr19:40834400-40853400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr19:40834800-40853600	Weak transcription	Small Intestine	intestine
7	chr19:40836000-40853600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:40837400-40853400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:40837400-40853600	Weak transcription	Stomach Mucosa	stomach
10	chr19:40839800-40852800	Weak transcription	Hela-S3	cervix
11	chr19:40839800-40853400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:40840000-40852800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr19:40840000-40852800	Weak transcription	HUVEC	blood vessel
14	chr19:40840000-40853400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr19:40840000-40853600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:40840200-40850400	Weak transcription	Osteobl	bone
17	chr19:40840200-40852800	Weak transcription	HepG2	liver
18	chr19:40840400-40850800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr19:40840400-40852800	Weak transcription	Fetal Kidney	kidney
20	chr19:40840400-40853000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr19:40840400-40853000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr19:40840400-40853000	Weak transcription	Fetal Brain Male	brain
23	chr19:40840400-40853400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr19:40841400-40853000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr19:40842200-40852800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr19:40842200-40853200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr19:40842200-40853600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr19:40842200-40853600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:40842400-40849000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:40842400-40850600	Weak transcription	Brain Substantia Nigra	brain
31	chr19:40842400-40852800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:40842400-40853000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr19:40842400-40853000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr19:40842400-40853400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:40842400-40853600	Weak transcription	Fetal Intestine Large	intestine
36	chr19:40842400-40853600	Weak transcription	Ovary	ovary
37	chr19:40842600-40853400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr19:40842800-40850400	Weak transcription	Esophagus	oesophagus
39	chr19:40842800-40853000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr19:40842800-40853600	Weak transcription	Pancreas	Pancrea
41	chr19:40843000-40850400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr19:40843000-40853000	Weak transcription	NH-A	brain
43	chr19:40843000-40853400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr19:40844600-40850000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:40844800-40849600	Strong transcription	Fetal Thymus	thymus
46	chr19:40845000-40849800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:40845400-40849200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr19:40845400-40852800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:40845400-40853000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr19:40845400-40853200	Weak transcription	Primary hematopoietic stem cells	blood

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