Variant report

Variant	rs73933241
Chromosome Location	chr19:40788442-40788443
allele	G/T
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	chr19:40788195-40792187	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr19:40788136-40791242	GM12878	blood:	n/a	n/a
3	GTF2F1	chr19:40788361-40788444	K562	blood:	n/a	n/a
4	POLR2A	chr19:40781762-40793937	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr19:40787276-40792053	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:40787955-40788566	HepG2	liver:	n/a	n/a
7	WRNIP1	chr19:40788095-40788606	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:40787704-40788609	K562	blood:	n/a	n/a
9	SIN3AK20	chr19:40787407-40793117	PANC-1	pancreas:	n/a	n/a
10	REST	chr19:40787574-40792112	PANC-1	pancreas:	n/a	chr19:40790862-40790875 chr19:40789693-40789706 chr19:40790806-40790816 chr19:40789758-40789768

No.	Distal block	Cell Line	Cell type
1	chr19:40695407..40698481-chr19:40788292..40792778,5	K562	blood:
2	chr19:40731324..40733318-chr19:40786434..40789035,2	MCF-7	breast:
3	chr19:40787579..40789839-chr19:40846986..40849835,2	MCF-7	breast:

Variant related genes	Relation type
AKT2	TF binding region
ENSG00000160392	Chromatin interaction
ENSG00000206925	Chromatin interaction
ENSG00000105219	Chromatin interaction
ENSG00000130758	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11665880	0.85[EUR][1000 genomes]
rs11666690	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11666860	0.83[EUR][1000 genomes]
rs11667443	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11667768	0.85[EUR][1000 genomes]
rs11667774	0.85[EUR][1000 genomes]
rs11668006	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11668520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11669006	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11669332	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11670323	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11670860	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11670912	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11671439	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17846842	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2356230	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28746190	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35090721	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3730052	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3730055	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41275746	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41275748	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41275750	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs45497695	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56672337	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58094119	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59058760	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59106111	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6508937	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66623822	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67587726	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7245751	0.88[EUR][1000 genomes]
rs7247515	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7249819	0.85[EUR][1000 genomes]
rs7252506	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73933225	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73933232	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73933236	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73933237	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73933238	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73933240	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8105478	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs873143	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs874269	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][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	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised 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	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer 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	35 gene(s)	inside rSNPs	diseases
6	nsv1057052	chr19:40776128-40789766	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	esv1005660	chr19:40784738-40790835	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40766200-40788600	Weak transcription	HSMMtube	muscle
2	chr19:40770000-40789600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:40770000-40789600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:40770200-40789600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr19:40770200-40790200	Weak transcription	Aorta	Aorta
6	chr19:40771400-40789400	Weak transcription	HUVEC	blood vessel
7	chr19:40779400-40789600	Enhancers	Left Ventricle	heart
8	chr19:40779800-40789800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr19:40782200-40789400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:40783000-40789600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr19:40783200-40789200	Enhancers	Brain Cingulate Gyrus	brain
12	chr19:40783400-40790000	Enhancers	Right Atrium	heart
13	chr19:40783800-40790600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:40784400-40789000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr19:40785000-40789200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:40785200-40789200	Enhancers	NHDF-Ad	bronchial
17	chr19:40785200-40789600	Genic enhancers	Fetal Intestine Small	intestine
18	chr19:40785400-40788800	Enhancers	Ovary	ovary
19	chr19:40785800-40788600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr19:40785800-40788600	Genic enhancers	HepG2	liver
21	chr19:40785800-40789000	Genic enhancers	K562	blood
22	chr19:40785800-40789600	Genic enhancers	Fetal Muscle Leg	muscle
23	chr19:40785800-40789600	Genic enhancers	Fetal Stomach	stomach
24	chr19:40786000-40790000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr19:40786200-40789400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr19:40786400-40789400	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr19:40786400-40789600	Enhancers	Colon Smooth Muscle	Colon
28	chr19:40786400-40790200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr19:40786600-40789200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr19:40786800-40788800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:40786800-40788800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr19:40786800-40789400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr19:40786800-40789400	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr19:40786800-40789800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:40787000-40788600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr19:40787000-40788600	Genic enhancers	Adipose Nuclei	Adipose
37	chr19:40787000-40788600	Genic enhancers	Stomach Smooth Muscle	stomach
38	chr19:40787000-40788800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr19:40787000-40788800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr19:40787000-40789000	Enhancers	Duodenum Mucosa	Duodenum
41	chr19:40787000-40789200	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr19:40787000-40789600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr19:40787000-40789600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr19:40787000-40789600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr19:40787000-40790000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr19:40787000-40790000	Genic enhancers	Spleen	Spleen
47	chr19:40787200-40788800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:40787200-40788800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr19:40787200-40788800	Weak transcription	HMEC	breast
50	chr19:40787200-40789200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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