Variant report

Variant	rs60067664
Chromosome Location	chr15:31616555-31616556
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr15:31615810-31616720	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:31615713-31621677	GM12878	blood:	n/a	n/a
3	TBP	chr15:31615801-31616919	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:31616555-31616796	A549	lung:	n/a	n/a
5	RELA	chr15:31615792-31616923	GM18951	blood:	n/a	n/a
6	POLR2A	chr15:31615786-31621591	GM18505	blood:	n/a	n/a
7	POLR2A	chr15:31616441-31616766	GM12878	blood:	n/a	n/a
8	PML	chr15:31616478-31619409	GM12878	blood:	n/a	n/a
9	EBF1	chr15:31615780-31616672	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:31615720-31621512	GM19099	blood:	n/a	n/a
11	MTA3	chr15:31615733-31619375	GM12878	blood:	n/a	n/a
12	MTA3	chr15:31616504-31617892	GM12878	blood:	n/a	n/a
13	SPI1	chr15:31616318-31616646	HL-60	blood:	n/a	n/a
14	SPI1	chr15:31616382-31616698	GM12891	blood:	n/a	n/a
15	SPI1	chr15:31616283-31616854	HL-60	blood:	n/a	n/a
16	WRNIP1	chr15:31615800-31617683	GM12878	blood:	n/a	n/a
17	POLR2A	chr15:31616476-31618811	GM12892	blood:	n/a	n/a
18	POLR2A	chr15:31615722-31619331	GM12891	blood:	n/a	n/a
19	POLR2A	chr15:31615723-31618767	GM12878	blood:	n/a	n/a
20	RELA	chr15:31615858-31619144	GM19099	blood:	n/a	n/a
21	POLR2A	chr15:31615722-31618840	GM12892	blood:	n/a	n/a
22	POLR2A	chr15:31615667-31619690	GM12892	blood:	n/a	n/a
23	RELA	chr15:31615809-31619597	GM15510	blood:	n/a	n/a
24	MXI1	chr15:31616553-31619628	GM12878	blood:	n/a	n/a
25	POLR2A	chr15:31615733-31619468	GM12892	blood:	n/a	n/a
26	POLR2A	chr15:31615649-31621703	GM12878	blood:	n/a	n/a
27	POLR2A	chr15:31615756-31619570	GM12878	blood:	n/a	n/a
28	POLR2A	chr15:31615939-31621339	PBDE	blood:	n/a	n/a
29	POLR2A	chr15:31615827-31621753	GM18951	blood:	n/a	n/a
30	POLR2A	chr15:31616468-31616617	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:31615051..31617348-chr15:31618558..31620295,2	MCF-7	breast:
2	chr15:31615054..31617899-chr15:31634755..31636481,2	MCF-7	breast:

No data

Variant related genes	Relation type
KLF13	TF binding region
ENSG00000169926	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs55746757	0.83[AMR][1000 genomes]
rs56026888	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56323816	0.83[AMR][1000 genomes]
rs56345334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56806445	1.00[AMR][1000 genomes]
rs59806222	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60450596	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60836875	0.83[AMR][1000 genomes]
rs60877973	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6493585	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7161899	0.83[AMR][1000 genomes]
rs7180819	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7182887	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7183839	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73381273	0.83[AMR][1000 genomes]
rs74010606	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74010607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74010608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74010609	0.83[AMR][1000 genomes]
rs74010610	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74010611	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74010614	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74010615	0.83[AMR][1000 genomes]
rs8032404	0.83[AMR][1000 genomes]
rs968594	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh 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	87 gene(s)	inside rSNPs	diseases
4	nsv932896	chr15:31292475-31730445	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv903838	chr15:31452911-31672128	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv1815415	chr15:31483843-31697213	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	esv34100	chr15:31496514-31792591	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv456747	chr15:31537496-31637996	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv568772	chr15:31537496-31637996	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv903840	chr15:31589970-31800149	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv1839818	chr15:31594828-31637996	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer 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	13 gene(s)	inside rSNPs	diseases
12	nsv542318	chr15:31601016-31628938	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv1050482	chr15:31601016-31672921	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer 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	13 gene(s)	inside rSNPs	diseases
14	nsv542319	chr15:31605961-31628938	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv1048082	chr15:31610245-31667000	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
16	nsv1045944	chr15:31610245-31672921	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31606800-31617200	Weak transcription	Spleen	Spleen
2	chr15:31607800-31616800	Enhancers	Fetal Thymus	thymus
3	chr15:31609200-31617000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr15:31609600-31616800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr15:31610000-31616600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr15:31610000-31616600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr15:31610400-31617000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:31610400-31617200	Weak transcription	Fetal Brain Female	brain
9	chr15:31610800-31617000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr15:31612000-31617000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr15:31612400-31617000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:31612800-31616800	Weak transcription	Dnd41	blood
13	chr15:31613800-31617000	Weak transcription	Esophagus	oesophagus
14	chr15:31614600-31617000	Enhancers	Primary T cells from cord blood	blood
15	chr15:31614800-31617000	Weak transcription	Fetal Intestine Large	intestine
16	chr15:31614800-31617200	Enhancers	Primary B cells from peripheral blood	blood
17	chr15:31615200-31616800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr15:31615200-31616800	Weak transcription	Fetal Intestine Small	intestine
19	chr15:31615200-31616800	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr15:31615400-31616800	Weak transcription	Hela-S3	cervix
21	chr15:31615400-31617000	Enhancers	Fetal Heart	heart
22	chr15:31615600-31617200	Weak transcription	HepG2	liver
23	chr15:31615800-31617200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:31615800-31617200	Enhancers	Adipose Nuclei	Adipose
25	chr15:31615800-31617200	Enhancers	Brain Hippocampus Middle	brain
26	chr15:31615800-31617400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr15:31615800-31617800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr15:31616000-31617000	Enhancers	Brain Germinal Matrix	brain
29	chr15:31616000-31617000	Weak transcription	Pancreas	Pancrea
30	chr15:31616000-31617200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr15:31616000-31617200	Enhancers	Brain Angular Gyrus	brain
32	chr15:31616000-31617200	Enhancers	Right Atrium	heart
33	chr15:31616000-31617200	Enhancers	Right Ventricle	heart
34	chr15:31616000-31617400	Flanking Active TSS	GM12878-XiMat	blood
35	chr15:31616000-31617800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr15:31616000-31617800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:31616000-31618000	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr15:31616200-31616800	Weak transcription	Left Ventricle	heart
39	chr15:31616200-31617000	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr15:31616200-31617200	Enhancers	Primary T cells fromperipheralblood	blood
41	chr15:31616200-31617200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr15:31616200-31617200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr15:31616200-31617200	Enhancers	Fetal Muscle Leg	muscle
44	chr15:31616200-31617400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr15:31616200-31617400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr15:31616200-31617400	Enhancers	Fetal Lung	lung
47	chr15:31616200-31617800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr15:31616400-31616600	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr15:31616400-31616600	Enhancers	Stomach Mucosa	stomach
50	chr15:31616400-31616800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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