Variant report

Variant	rs16972264
Chromosome Location	chr15:42213610-42213611
allele	C/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	chr15:42213282-42214060	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:42213041-42215894	GM12892	blood:	n/a	n/a
3	POLR2A	chr15:42213240-42214071	GM12891	blood:	n/a	n/a
4	POLR2A	chr15:42213037-42214846	GM12891	blood:	n/a	n/a
5	POLR2A	chr15:42211803-42213732	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr15:42213017-42214167	GM12891	blood:	n/a	n/a
7	RCOR1	chr15:42212191-42214421	IMR90	lung:	n/a	n/a
8	POLR2A	chr15:42212891-42214265	GM12892	blood:	n/a	n/a
9	POLR2A	chr15:42213111-42214092	GM12892	blood:	n/a	n/a
10	POLR2A	chr15:42212969-42214894	GM12891	blood:	n/a	n/a
11	POLR2A	chr15:42213131-42214219	GM12878	blood:	n/a	n/a
12	POLR2A	chr15:42213098-42214941	GM12892	blood:	n/a	n/a
13	KAP1	chr15:42213376-42213903	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
ENSG00000259883	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12102194	1.00[EUR][1000 genomes]
rs16972239	1.00[EUR][1000 genomes]
rs16972253	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16972274	1.00[EUR][1000 genomes]
rs16972281	1.00[EUR][1000 genomes]
rs16972286	1.00[EUR][1000 genomes]
rs16972405	1.00[EUR][1000 genomes]
rs17842096	1.00[EUR][1000 genomes]
rs28626380	1.00[EUR][1000 genomes]
rs34424865	1.00[EUR][1000 genomes]
rs34807597	1.00[EUR][1000 genomes]
rs36126315	1.00[EUR][1000 genomes]
rs61281049	1.00[EUR][1000 genomes]
rs61736067	1.00[EUR][1000 genomes]
rs61741913	1.00[EUR][1000 genomes]
rs61748710	1.00[EUR][1000 genomes]
rs61753581	1.00[EUR][1000 genomes]
rs7173832	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7176585	1.00[EUR][1000 genomes]
rs7177717	1.00[EUR][1000 genomes]
rs7180290	1.00[EUR][1000 genomes]
rs7182680	1.00[EUR][1000 genomes]
rs7182959	1.00[EUR][1000 genomes]
rs919142	1.00[EUR][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	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv427958	chr15:42051317-42301283	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv904116	chr15:42076387-42229852	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
4	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
5	nsv1038933	chr15:42138456-42309087	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
6	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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	59 gene(s)	inside rSNPs	diseases
7	nsv1054728	chr15:42177772-42310009	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv976926	chr15:42202094-42217599	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42190400-42218600	Weak transcription	Fetal Lung	lung
2	chr15:42197200-42218600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr15:42197400-42218600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr15:42201200-42225400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:42202200-42218400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr15:42202200-42218600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:42202200-42225200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr15:42204000-42217600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr15:42208400-42214400	Enhancers	Right Atrium	heart
10	chr15:42208400-42214800	Enhancers	Ovary	ovary
11	chr15:42208400-42218800	Genic enhancers	HUVEC	blood vessel
12	chr15:42209200-42218000	Weak transcription	Fetal Thymus	thymus
13	chr15:42209600-42213800	Genic enhancers	Fetal Intestine Small	intestine
14	chr15:42209800-42216000	Strong transcription	GM12878-XiMat	blood
15	chr15:42210000-42214400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr15:42210200-42216000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr15:42210400-42213800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:42210400-42218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:42210600-42214400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:42210600-42218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:42210600-42225400	Weak transcription	K562	blood
22	chr15:42210800-42213800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr15:42210800-42217600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr15:42210800-42221400	Weak transcription	Brain Angular Gyrus	brain
25	chr15:42210800-42230400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr15:42211000-42213800	Strong transcription	HMEC	breast
27	chr15:42211000-42214000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr15:42211200-42214800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr15:42211200-42218400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr15:42211200-42218400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr15:42211200-42218800	Weak transcription	Hela-S3	cervix
32	chr15:42211400-42214200	Enhancers	NH-A	brain
33	chr15:42211400-42214600	Genic enhancers	HSMM	muscle
34	chr15:42211400-42218200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:42211400-42219800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr15:42211600-42213800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:42211600-42214200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr15:42211600-42214800	Enhancers	Stomach Mucosa	stomach
39	chr15:42211600-42216200	Enhancers	Left Ventricle	heart
40	chr15:42211600-42218000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr15:42211600-42221000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr15:42211600-42226200	Weak transcription	Thymus	Thymus
43	chr15:42211800-42213800	Enhancers	Small Intestine	intestine
44	chr15:42211800-42214000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr15:42211800-42214200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:42211800-42214600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr15:42211800-42215600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr15:42211800-42215600	Enhancers	HepG2	liver
49	chr15:42211800-42216000	Enhancers	Right Ventricle	heart
50	chr15:42211800-42218400	Weak transcription	Psoas Muscle	Psoas

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