Variant report

Variant	rs73981405
Chromosome Location	chr17:15922847-15922848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:15922758-15923153	HepG2	liver:	n/a	n/a
2	POLR2A	chr17:15922667-15923161	GM12891	blood:	n/a	n/a
3	POLR2A	chr17:15921339-15923526	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr17:15922489-15922970	K562	blood:	n/a	n/a
5	POLR2A	chr17:15922702-15923183	GM12878	blood:	n/a	n/a
6	POLR2A	chr17:15922746-15923185	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr17:15922655-15923275	GM12892	blood:	n/a	n/a
8	POLR2A	chr17:15921428-15927637	K562	blood:	n/a	n/a
9	POLR2A	chr17:15922631-15922926	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr17:15922845-15922855	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr17:15922701-15923211	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr17:15922760-15922855	MCF-7	breast:	n/a	n/a
13	POLR2A	chr17:15922746-15922975	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr17:15921424-15926210	A549	lung:	n/a	n/a
15	POLR2A	chr17:15922764-15924356	GM12878	blood:	n/a	n/a
16	POLR2A	chr17:15922399-15923127	GM12878	blood:	n/a	n/a
17	POLR2A	chr17:15922700-15922928	Hela-S3	cervix:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:15920209..15922955-chr17:15924177..15926730,2	K562	blood:
2	chr17:15903246..15906052-chr17:15922157..15923827,2	K562	blood:
3	chr17:15918143..15920477-chr17:15921495..15924893,3	K562	blood:
4	chr17:15918728..15924279-chr17:15927914..15931403,6	K562	blood:
5	chr17:15920435..15924894-chr17:15925567..15929414,4	K562	blood:
6	chr17:15902634..15904373-chr17:15919410..15923219,3	MCF-7	breast:

No data

Variant related genes	Relation type
TTC19	TF binding region
ENSG00000214941	Chromatin interaction
ENSG00000011295	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs55847732	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56727081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57322947	1.00[AMR][1000 genomes]
rs58071251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58921498	1.00[AMR][1000 genomes]
rs59078878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59853116	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60089980	1.00[AMR][1000 genomes]
rs60385981	1.00[AMR][1000 genomes]
rs73978586	1.00[AMR][1000 genomes]
rs73978588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981407	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981408	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981409	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981412	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981416	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981418	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981449	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981456	1.00[AMR][1000 genomes]
rs73981458	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
5	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
9	nsv907707	chr17:15846535-15950751	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv907709	chr17:15851196-15937487	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv907708	chr17:15851196-15950751	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv1057493	chr17:15852125-15930718	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv543215	chr17:15852125-15930718	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv907710	chr17:15854257-15950751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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	diseases
15	nsv1062220	chr17:15869557-16093156	Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
16	nsv1064878	chr17:15869557-16097241	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
17	nsv1055173	chr17:15875935-16097241	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
18	nsv1056157	chr17:15890584-16088473	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
19	nsv833377	chr17:15912013-16104515	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15905000-15939600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr17:15905000-15946400	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr17:15905200-15923200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:15905200-15986400	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr17:15905400-15931000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr17:15905400-15946600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr17:15906400-15926400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr17:15906400-15939400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:15907800-15935600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr17:15909000-15928000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr17:15909000-15928200	Weak transcription	Gastric	stomach
12	chr17:15909000-15929800	Weak transcription	Esophagus	oesophagus
13	chr17:15911000-15928200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr17:15911400-15924800	Weak transcription	Small Intestine	intestine
15	chr17:15912000-15925400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr17:15912000-15929800	Weak transcription	Pancreas	Pancrea
17	chr17:15912200-15924000	Weak transcription	Aorta	Aorta
18	chr17:15912200-15928200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:15912200-15928200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr17:15912200-15928200	Weak transcription	Colonic Mucosa	Colon
21	chr17:15912200-15928200	Weak transcription	Spleen	Spleen
22	chr17:15912200-15928800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr17:15912600-15928200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr17:15912600-15928200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr17:15912600-15928200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr17:15913800-15990800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr17:15914200-15926000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr17:15914400-15926200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr17:15915200-15927800	Weak transcription	Fetal Kidney	kidney
30	chr17:15915200-15928400	Weak transcription	Stomach Mucosa	stomach
31	chr17:15915400-15998000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr17:15915800-15924800	Weak transcription	Left Ventricle	heart
33	chr17:15916600-15924000	Strong transcription	Hela-S3	cervix
34	chr17:15917400-15952800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr17:15917800-15923200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr17:15917800-15926800	Weak transcription	Brain Hippocampus Middle	brain
37	chr17:15917800-15927000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr17:15917800-15928000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr17:15917800-15928200	Weak transcription	Fetal Brain Male	brain
40	chr17:15918000-15923200	Strong transcription	Fetal Lung	lung
41	chr17:15918000-15924600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr17:15918000-15925000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr17:15918000-15925800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr17:15918000-15927200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr17:15918000-15927400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr17:15918000-15927600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr17:15918000-15928200	Weak transcription	Ovary	ovary
48	chr17:15918200-15924000	Weak transcription	NHLF	lung
49	chr17:15918200-15924800	Weak transcription	K562	blood
50	chr17:15918200-15925200	Weak transcription	Primary B cells from cord blood	blood

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