Variant report

Variant	rs3028991
Chromosome Location	chr19:36628905-36628906
allele	-/AAATAAAT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36605008..36606623-chr19:36627761..36629746,2	K562	blood:
2	chr19:36604617..36608522-chr19:36628102..36632329,9	MCF-7	breast:
3	chr19:36628146..36630638-chr19:37017222..37019646,2	K562	blood:
4	chr19:36604594..36608993-chr19:36628830..36633466,13	K562	blood:

Variant related genes	Relation type
ENSG00000105254	Chromatin interaction
ENSG00000254004	Chromatin interaction
ENSG00000105258	Chromatin interaction
ENSG00000228629	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	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers 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 miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv911642	chr19:36620778-36651499	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv911643	chr19:36627790-36651499	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv911644	chr19:36628463-36643695	Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv911645	chr19:36628463-36651499	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36619600-36630200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:36619800-36630000	Weak transcription	Fetal Thymus	thymus
3	chr19:36619800-36630200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr19:36622600-36629800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:36623600-36630200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr19:36623600-36630200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr19:36623800-36629600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:36623800-36630400	Weak transcription	Lung	lung
9	chr19:36624000-36630200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:36624200-36630200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr19:36624600-36629600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr19:36624600-36630000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:36626200-36629600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:36626600-36630200	Weak transcription	Right Ventricle	heart
15	chr19:36626600-36630400	Weak transcription	Esophagus	oesophagus
16	chr19:36626600-36630400	Weak transcription	Gastric	stomach
17	chr19:36628000-36630000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:36628000-36630000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:36628000-36630000	Enhancers	HMEC	breast
20	chr19:36628000-36630200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr19:36628000-36630200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr19:36628000-36630200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr19:36628000-36630200	Weak transcription	Left Ventricle	heart
24	chr19:36628000-36630400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr19:36628200-36629600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:36628200-36630000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr19:36628200-36630200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr19:36628200-36630200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr19:36628200-36630200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr19:36628200-36630200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:36628200-36630200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr19:36628200-36630200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:36628200-36630200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:36628200-36630200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:36628200-36630200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr19:36628200-36630200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:36628200-36630200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr19:36628200-36630200	Weak transcription	Adipose Nuclei	Adipose
39	chr19:36628200-36630200	Weak transcription	Liver	Liver
40	chr19:36628200-36630200	Weak transcription	Brain Hippocampus Middle	brain
41	chr19:36628200-36630200	Weak transcription	Colonic Mucosa	Colon
42	chr19:36628200-36630200	Weak transcription	Colon Smooth Muscle	Colon
43	chr19:36628200-36630200	Weak transcription	Fetal Intestine Large	intestine
44	chr19:36628200-36630200	Weak transcription	Placenta	Placenta
45	chr19:36628200-36630200	Weak transcription	Pancreas	Pancrea
46	chr19:36628200-36630200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr19:36628200-36630200	Weak transcription	Psoas Muscle	Psoas
48	chr19:36628200-36630200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr19:36628200-36630200	Weak transcription	Right Atrium	heart
50	chr19:36628200-36630200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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