Variant report

Variant	rs73928350
Chromosome Location	chr19:36388506-36388507
allele	A/G
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	chr19:36383824-36391793	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:36388326-36390442	HL-60	blood:	n/a	n/a
3	POLR2A	chr19:36386218-36391884	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:36388356-36388890	GM12892	blood:	n/a	n/a
5	POLR2A	chr19:36388367-36389165	GM12892	blood:	n/a	n/a
6	POLR2A	chr19:36388474-36391831	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36387498..36389148-chr19:36389747..36391411,2	K562	blood:
2	chr19:36388094..36390635-chr19:36498099..36499853,2	K562	blood:
3	chr19:36379784..36382461-chr19:36387954..36392218,4	MCF-7	breast:

Variant related genes	Relation type
HCST	TF binding region
NFKBID	TF binding region
ENSG00000167604	Chromatin interaction
ENSG00000181392	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs56132631	1.00[EUR][1000 genomes]
rs57740310	1.00[EUR][1000 genomes]
rs57785375	1.00[EUR][1000 genomes]
rs60697711	1.00[EUR][1000 genomes]
rs61288857	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7249567	1.00[EUR][1000 genomes]
rs7252053	1.00[EUR][1000 genomes]
rs7254298	1.00[EUR][1000 genomes]
rs7254905	1.00[EUR][1000 genomes]
rs7254994	1.00[EUR][1000 genomes]
rs7259892	1.00[EUR][1000 genomes]
rs73928352	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73928355	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73928368	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36361000-36389000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:36361200-36389200	Weak transcription	Right Atrium	heart
3	chr19:36370600-36389000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:36370800-36389200	Weak transcription	HSMM	muscle
5	chr19:36370800-36389400	Weak transcription	HUVEC	blood vessel
6	chr19:36370800-36389400	Weak transcription	NH-A	brain
7	chr19:36373400-36389600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr19:36373600-36389200	Weak transcription	Fetal Brain Male	brain
9	chr19:36377600-36388800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:36377600-36388800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:36377600-36389000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:36377600-36389000	Strong transcription	Fetal Stomach	stomach
13	chr19:36377600-36389400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:36377800-36388600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:36377800-36388600	Strong transcription	Spleen	Spleen
16	chr19:36377800-36389000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:36378000-36388600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr19:36378200-36388600	Strong transcription	Lung	lung
19	chr19:36378200-36388800	Strong transcription	Fetal Intestine Small	intestine
20	chr19:36378200-36389000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr19:36378200-36389200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:36378600-36388800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:36378800-36389000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr19:36378800-36389400	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr19:36379600-36388800	Weak transcription	Stomach Mucosa	stomach
26	chr19:36379600-36389400	Weak transcription	HSMMtube	muscle
27	chr19:36380800-36389200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr19:36380800-36389200	Weak transcription	Brain Substantia Nigra	brain
29	chr19:36380800-36389600	Weak transcription	Fetal Kidney	kidney
30	chr19:36381000-36388600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr19:36381200-36390000	Weak transcription	K562	blood
32	chr19:36381400-36389200	Weak transcription	Fetal Brain Female	brain
33	chr19:36381800-36389200	Weak transcription	Small Intestine	intestine
34	chr19:36382000-36389600	Weak transcription	Fetal Lung	lung
35	chr19:36382200-36389000	Weak transcription	Brain Angular Gyrus	brain
36	chr19:36382200-36389000	Weak transcription	Hela-S3	cervix
37	chr19:36382200-36389600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:36383200-36388600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr19:36383400-36388800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:36383600-36388800	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr19:36383600-36388800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr19:36383600-36389000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr19:36383800-36388600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr19:36384000-36388800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr19:36384000-36389000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr19:36384200-36388600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr19:36384400-36389000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr19:36385200-36388800	Strong transcription	A549	lung
49	chr19:36385200-36390000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
50	chr19:36385400-36388600	Strong transcription	HMEC	breast

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