Variant report

Variant	rs28417171
Chromosome Location	chr19:19501041-19501042
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19451747..19453857-chr19:19500939..19503210,2	K562	blood:
2	chr19:19495178..19498166-chr19:19498420..19501797,5	MCF-7	breast:
3	chr19:19499667..19502050-chr19:19515630..19518274,2	MCF-7	breast:
4	chr19:19491673..19504307-chr19:19513999..19523684,33	K562	blood:
5	chr19:19495579..19499237-chr19:19499394..19505586,7	K562	blood:
6	chr19:19499575..19501902-chr19:19506354..19508385,3	K562	blood:
7	chr19:19500452..19502150-chr19:19509546..19512266,2	K562	blood:
8	chr19:19500069..19502358-chr19:19504221..19506557,2	MCF-7	breast:
9	chr19:19494245..19498286-chr19:19498313..19501756,5	MCF-7	breast:
10	chr19:19499586..19501861-chr19:19503072..19505827,3	K562	blood:
11	chr19:19492268..19501550-chr19:19512499..19523684,29	K562	blood:

No data

Variant related genes	Relation type
ENSG00000129933	Chromatin interaction
ENSG00000167491	Chromatin interaction
ENSG00000267234	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10404351	0.91[AFR][1000 genomes]
rs10411169	0.83[AFR][1000 genomes]
rs10415636	0.96[AFR][1000 genomes]
rs10423185	0.91[AFR][1000 genomes]
rs10425902	0.87[AFR][1000 genomes]
rs10426883	0.91[AFR][1000 genomes]
rs13344668	0.83[AFR][1000 genomes]
rs28694020	0.83[AFR][1000 genomes]
rs8111835	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19497600-19515800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:19498000-19501200	Enhancers	Placenta	Placenta
3	chr19:19498000-19501400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:19498000-19501400	Weak transcription	Brain Substantia Nigra	brain
5	chr19:19498000-19501400	Enhancers	Fetal Muscle Leg	muscle
6	chr19:19498000-19501400	Enhancers	Psoas Muscle	Psoas
7	chr19:19498000-19502000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr19:19498000-19502200	Enhancers	Spleen	Spleen
9	chr19:19498000-19502600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:19498000-19505400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr19:19498000-19505600	Weak transcription	Gastric	stomach
12	chr19:19498000-19506600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr19:19498000-19510400	Weak transcription	A549	lung
14	chr19:19498000-19510400	Weak transcription	NHDF-Ad	bronchial
15	chr19:19498000-19515600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr19:19498200-19501600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:19498200-19502600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr19:19498200-19502600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr19:19498200-19502800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr19:19498200-19505800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr19:19498200-19510400	Weak transcription	Fetal Stomach	stomach
22	chr19:19498400-19513600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr19:19498800-19502600	Weak transcription	Colonic Mucosa	Colon
24	chr19:19498800-19502800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr19:19498800-19506800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr19:19499000-19501400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr19:19499000-19501800	Enhancers	Aorta	Aorta
28	chr19:19499200-19501200	Enhancers	Fetal Lung	lung
29	chr19:19499200-19501200	Enhancers	Right Atrium	heart
30	chr19:19499400-19501200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:19499400-19502800	Enhancers	Fetal Thymus	thymus
32	chr19:19499400-19504200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr19:19499600-19501400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:19499600-19504200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr19:19499600-19505000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr19:19499600-19505600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr19:19499600-19507000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr19:19499600-19507400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr19:19499800-19501400	Genic enhancers	Thymus	Thymus
40	chr19:19499800-19502400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr19:19499800-19503200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr19:19499800-19503200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr19:19499800-19505400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:19499800-19505800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:19499800-19506800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr19:19499800-19510400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:19500000-19502400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:19500200-19501400	Enhancers	HMEC	breast
49	chr19:19500200-19501800	Enhancers	Duodenum Mucosa	Duodenum
50	chr19:19500200-19501800	Enhancers	Lung	lung

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