Variant report

Variant	rs73927975
Chromosome Location	chr19:35768659-35768660
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	chr19:35768601-35768861	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:35768620-35768726	K562	blood:	n/a	n/a
3	POLR2A	chr19:35768327-35768961	GM12892	blood:	n/a	n/a
4	POLR2A	chr19:35768155-35768881	HL-60	blood:	n/a	n/a
5	POLR2A	chr19:35767549-35768885	K562	blood:	n/a	n/a
6	POLR2A	chr19:35768523-35768967	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:35768096-35768799	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35758518..35761825-chr19:35766786..35769886,4	K562	blood:

Variant related genes	Relation type
HAMP	TF binding region
USF2	TF binding region
ENSG00000105698	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55865369	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56362636	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59981335	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927972	0.84[AFR][1000 genomes]
rs73927976	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927977	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv911618	chr19:35734107-35807845	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	esv1836312	chr19:35741456-35786868	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
9	nsv911619	chr19:35749563-35775441	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
10	nsv911620	chr19:35752917-35771382	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
11	nsv911621	chr19:35752917-35772471	Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers 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 target site	30 gene(s)	inside rSNPs	n/a
12	nsv911622	chr19:35752917-35773146	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
13	nsv911623	chr19:35752917-35775441	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
14	nsv911624	chr19:35759043-35771382	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35761000-35770400	Weak transcription	HSMM	muscle
2	chr19:35761200-35770200	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr19:35761200-35770400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:35761200-35770400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:35761200-35770600	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr19:35761200-35772200	Weak transcription	Psoas Muscle	Psoas
7	chr19:35761400-35769200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr19:35761400-35769800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:35761400-35770000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:35761400-35770200	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr19:35761400-35770200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:35761400-35770200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:35761400-35770400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr19:35761400-35770400	Strong transcription	Rectal Smooth Muscle	rectum
15	chr19:35761400-35770600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr19:35761400-35770800	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr19:35761400-35770800	Strong transcription	Fetal Thymus	thymus
18	chr19:35761400-35771000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr19:35761400-35771000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr19:35761400-35771000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr19:35761400-35771000	Strong transcription	Brain Germinal Matrix	brain
22	chr19:35761400-35771200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:35761400-35772000	Strong transcription	Fetal Stomach	stomach
24	chr19:35761400-35775600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr19:35761600-35770000	Strong transcription	Primary T cells from cord blood	blood
26	chr19:35761600-35770400	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr19:35761600-35770600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:35761600-35770600	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr19:35761600-35771000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:35761600-35771000	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr19:35761600-35771000	Strong transcription	Fetal Intestine Large	intestine
32	chr19:35761600-35771000	Strong transcription	Thymus	Thymus
33	chr19:35761600-35771200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr19:35761600-35771400	Strong transcription	Fetal Intestine Small	intestine
35	chr19:35761600-35771400	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr19:35761800-35769600	Weak transcription	Fetal Brain Male	brain
37	chr19:35761800-35770200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr19:35761800-35770600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:35761800-35770800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr19:35761800-35771000	Strong transcription	Fetal Brain Female	brain
41	chr19:35762000-35770600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr19:35762200-35771200	Strong transcription	Right Ventricle	heart
43	chr19:35762400-35772000	Weak transcription	K562	blood
44	chr19:35762800-35770200	Strong transcription	Dnd41	blood
45	chr19:35762800-35772000	Weak transcription	Stomach Mucosa	stomach
46	chr19:35762800-35780000	Weak transcription	Hela-S3	cervix
47	chr19:35763000-35770000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr19:35763200-35770000	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr19:35763200-35770800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:35763200-35771800	Strong transcription	Fetal Muscle Leg	muscle

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