Variant report

Variant	rs4332845
Chromosome Location	chr19:40785505-40785506
allele	A/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	ZNF263	chr19:40785485-40787027	HEK293-T-REx	kidney:	n/a	n/a
2	ELF1	chr19:40784800-40786773	GM12878	blood:	n/a	chr19:40785706-40785719
3	CTCF	chr19:40785480-40785630	AoAF	blood vessel:	n/a	n/a
4	REST	chr19:40784619-40787303	PANC-1	pancreas:	n/a	chr19:40785994-40786004 chr19:40785201-40785214 chr19:40787050-40787063 chr19:40786402-40786415 chr19:40784931-40784941 chr19:40787050-40787063
5	ELF1	chr19:40785495-40785887	K562	blood:	n/a	chr19:40785706-40785719
6	POLR2A	chr19:40781762-40793937	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40768260..40771807-chr19:40783478..40786593,4	K562	blood:
2	chr19:40783887..40786272-chr19:41107076..41108731,2	K562	blood:
3	chr19:40776468..40779839-chr19:40784717..40787633,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205041	TF binding region
AKT2	TF binding region
ENSG00000105221	Chromatin interaction
ENSG00000090006	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10405207	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11668242	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11880261	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12609706	0.81[ASN][1000 genomes]
rs12974529	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12981110	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2304189	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3730050	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3730051	0.81[AMR][1000 genomes]
rs4239506	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4257318	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4277441	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4337402	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4490099	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4499338	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4558508	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4802071	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4802073	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4803320	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6508936	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7248338	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7249146	0.83[ASN][1000 genomes]
rs7250897	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7255581	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7257972	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7260106	0.81[ASN][1000 genomes]
rs7260517	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs748236	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7508604	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8102171	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8104727	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8110888	0.81[ASN][1000 genomes]
rs969531	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9749283	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv1797453	chr19:40780963-40786797	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	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:121 , 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	chr19:40771600-40786000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr19:40776000-40787400	Weak transcription	A549	lung
9	chr19:40776600-40785800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:40778000-40786400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:40778800-40786200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr19:40778800-40787600	Weak transcription	Hela-S3	cervix
13	chr19:40779000-40786800	Weak transcription	Dnd41	blood
14	chr19:40779400-40789600	Enhancers	Left Ventricle	heart
15	chr19:40779800-40789800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr19:40780600-40786200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr19:40781000-40785800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr19:40781000-40787800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr19:40781200-40786000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:40781400-40785600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr19:40781400-40788000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:40781400-40788000	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr19:40781600-40785800	Enhancers	K562	blood
24	chr19:40781600-40787400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:40782200-40789400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:40782800-40785800	Enhancers	Liver	Liver
27	chr19:40782800-40786800	Enhancers	Primary T cells fromperipheralblood	blood
28	chr19:40783000-40788200	Enhancers	Pancreas	Pancrea
29	chr19:40783000-40789600	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr19:40783200-40786000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:40783200-40787000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr19:40783200-40787400	Enhancers	Fetal Intestine Large	intestine
33	chr19:40783200-40787600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:40783200-40788200	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr19:40783200-40789200	Enhancers	Brain Cingulate Gyrus	brain
36	chr19:40783400-40785800	Enhancers	Stomach Mucosa	stomach
37	chr19:40783400-40786600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:40783400-40787400	Enhancers	Lung	lung
39	chr19:40783400-40788000	Enhancers	Brain Anterior Caudate	brain
40	chr19:40783400-40788400	Enhancers	Brain Substantia Nigra	brain
41	chr19:40783400-40790000	Enhancers	Right Atrium	heart
42	chr19:40783600-40785800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr19:40783600-40786000	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr19:40783600-40786000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr19:40783600-40787000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr19:40783600-40787000	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr19:40783600-40787200	Enhancers	Placenta	Placenta
48	chr19:40783600-40787400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:40783600-40787400	Enhancers	Fetal Heart	heart
50	chr19:40783600-40788000	Enhancers	Brain Angular Gyrus	brain

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