Variant report

Variant	rs73549922
Chromosome Location	chr19:39939244-39939245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39937361..39939355-chr19:39949611..39951111,2	K562	blood:
2	chr19:39938346..39940025-chr19:39963736..39966601,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196235	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10413140	1.00[AMR][1000 genomes]
rs13346052	1.00[AMR][1000 genomes]
rs61569178	1.00[AMR][1000 genomes]
rs73547970	1.00[AMR][1000 genomes]
rs73547976	1.00[AMR][1000 genomes]
rs73547991	1.00[AMR][1000 genomes]
rs73547993	1.00[AMR][1000 genomes]
rs73547999	1.00[AMR][1000 genomes]
rs73549905	1.00[AMR][1000 genomes]
rs73549906	1.00[AMR][1000 genomes]
rs73549912	1.00[AMR][1000 genomes]
rs73549928	1.00[AMR][1000 genomes]
rs73549930	1.00[AMR][1000 genomes]
rs73549931	1.00[AMR][1000 genomes]
rs73551806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551829	1.00[AMR][1000 genomes]
rs73551839	1.00[AMR][1000 genomes]
rs73551844	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7359872	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911685	chr19:39888449-39948779	Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv911689	chr19:39903088-40021759	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv523856	chr19:39913558-39997472	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	esv1791966	chr19:39921479-39954931	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
6	nsv544003	chr19:39937078-39974282	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 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	chr19:39936800-39949200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:39937000-39949000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:39937000-39971000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:39937200-39939400	Genic enhancers	Fetal Stomach	stomach
5	chr19:39937200-39940600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:39937200-39941600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:39937200-39943800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:39937400-39939400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:39937400-39939400	Genic enhancers	Fetal Muscle Leg	muscle
10	chr19:39937400-39939400	Enhancers	NHDF-Ad	bronchial
11	chr19:39937400-39940000	Genic enhancers	Brain Cingulate Gyrus	brain
12	chr19:39937400-39940200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:39937400-39941200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr19:39937400-39942800	Weak transcription	Fetal Kidney	kidney
15	chr19:39937400-39944600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr19:39937400-39971000	Weak transcription	Right Atrium	heart
17	chr19:39937600-39939400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
18	chr19:39937600-39939400	Genic enhancers	A549	lung
19	chr19:39937600-39939400	Enhancers	HSMMtube	muscle
20	chr19:39937600-39939400	Genic enhancers	HUVEC	blood vessel
21	chr19:39937600-39939400	Genic enhancers	NHEK	skin
22	chr19:39937600-39940000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr19:39937600-39940000	Enhancers	Liver	Liver
24	chr19:39937600-39940000	Genic enhancers	NHLF	lung
25	chr19:39937600-39940200	Genic enhancers	Brain Angular Gyrus	brain
26	chr19:39937600-39940200	Genic enhancers	K562	blood
27	chr19:39937600-39940400	Genic enhancers	Brain Germinal Matrix	brain
28	chr19:39937600-39946000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr19:39937600-39950000	Weak transcription	Fetal Brain Male	brain
30	chr19:39937800-39939400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr19:39937800-39939400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr19:39937800-39939400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:39937800-39939600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr19:39937800-39940000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:39937800-39940200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:39937800-39940600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
37	chr19:39937800-39941600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr19:39937800-39942200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:39937800-39943400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr19:39937800-39946200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:39938000-39940000	Genic enhancers	Dnd41	blood
42	chr19:39938000-39941800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr19:39938000-39942200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr19:39938200-39940000	Genic enhancers	Primary T cells fromperipheralblood	blood
45	chr19:39938200-39940600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr19:39938200-39942800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr19:39938400-39939400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr19:39938400-39939400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:39938400-39939400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:39938400-39939400	Genic enhancers	Brain Anterior Caudate	brain

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