Variant report

Variant	rs59271769
Chromosome Location	chr15:42261851-42261852
allele	A/C
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	STAT5A	chr15:42261762-42262646	GM12878	blood:	n/a	chr15:42262211-42262219 chr15:42262544-42262552
2	POU2F2	chr15:42261713-42263111	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:42261573-42265272	GM12891	blood:	n/a	n/a
4	GATA3	chr15:42261814-42262439	SK-N-SH	brain:	n/a	chr15:42262100-42262107 chr15:42262093-42262114 chr15:42262100-42262107 chr15:42262095-42262111 chr15:42262098-42262107 chr15:42262367-42262377 chr15:42262100-42262107 chr15:42262098-42262108
5	POLR2A	chr15:42261750-42265284	GM19193	blood:	n/a	n/a
6	WRNIP1	chr15:42261762-42263061	GM12878	blood:	n/a	n/a
7	BHLHE40	chr15:42261819-42262737	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:42261815-42263231	HUVEC	blood vessel:	n/a	n/a
9	TEAD4	chr15:42261838-42262298	K562	blood:	n/a	chr15:42262077-42262086
10	POLR2A	chr15:42261809-42265207	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:42261575-42265422	GM12878	blood:	n/a	n/a
12	POLR2A	chr15:42261591-42265371	GM12892	blood:	n/a	n/a
13	POLR2A	chr15:42261658-42265306	GM12892	blood:	n/a	n/a
14	POLR2A	chr15:42261717-42265303	GM12878	blood:	n/a	n/a
15	POLR2A	chr15:42261511-42265356	GM12892	blood:	n/a	n/a
16	GATA2	chr15:42261753-42262706	HUVEC	blood vessel:	n/a	chr15:42262100-42262107 chr15:42262093-42262114 chr15:42262100-42262107 chr15:42262095-42262111 chr15:42262097-42262111 chr15:42262098-42262107 chr15:42262367-42262377 chr15:42262100-42262107 chr15:42262098-42262108
17	RELA	chr15:42261791-42262660	GM19099	blood:	n/a	chr15:42262343-42262352 chr15:42262343-42262352
18	POLR2A	chr15:42261813-42263239	GM12892	blood:	n/a	n/a
19	POLR2A	chr15:42261840-42262670	GM12878	blood:	n/a	n/a
20	POLR2A	chr15:42261574-42265285	GM12891	blood:	n/a	n/a
21	GATA3	chr15:42261739-42262398	SK-N-SH	brain:	n/a	chr15:42262100-42262107 chr15:42262093-42262114 chr15:42262100-42262107 chr15:42262095-42262111 chr15:42262098-42262107 chr15:42262367-42262377 chr15:42262100-42262107 chr15:42262098-42262108
22	POLR2A	chr15:42257469-42265439	GM12878	blood:	n/a	n/a
23	POLR2A	chr15:42261737-42263021	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr15:42261804-42265319	GM12891	blood:	n/a	n/a
25	MTA3	chr15:42261591-42265440	GM12878	blood:	n/a	n/a
26	POLR2A	chr15:42261729-42265245	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:42260388..42261984-chr15:42262083..42263811,2	K562	blood:
2	chr15:42227796..42230685-chr15:42260289..42262026,2	K562	blood:
3	chr15:42260486..42263450-chr8:104310584..104312154,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246740	TF binding region
ENSG00000247081	Chromatin interaction
ENSG00000164930	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2412653	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72726023	0.85[AMR][1000 genomes];0.98[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	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	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
4	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
5	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
6	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
7	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42230400-42262200	Weak transcription	Thymus	Thymus
2	chr15:42246200-42262000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr15:42246200-42262000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr15:42246400-42262200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:42248600-42263400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:42250400-42263600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:42250600-42262800	Weak transcription	Aorta	Aorta
8	chr15:42250800-42262000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr15:42254600-42262000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:42256200-42262200	Enhancers	Left Ventricle	heart
11	chr15:42257600-42263400	Enhancers	Primary B cells from peripheral blood	blood
12	chr15:42258200-42262200	Enhancers	Osteobl	bone
13	chr15:42258200-42262600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:42258200-42263400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr15:42258600-42262000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr15:42258600-42262000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:42258600-42262200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr15:42258600-42262800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:42258600-42263000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr15:42258600-42263800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:42258600-42263800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr15:42258800-42262000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr15:42259000-42262200	Weak transcription	A549	lung
24	chr15:42259000-42262600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr15:42259200-42262200	Enhancers	Fetal Heart	heart
26	chr15:42259200-42263200	Weak transcription	Colon Smooth Muscle	Colon
27	chr15:42259400-42262000	Weak transcription	Liver	Liver
28	chr15:42259400-42262000	Weak transcription	Stomach Mucosa	stomach
29	chr15:42259400-42262400	Flanking Active TSS	GM12878-XiMat	blood
30	chr15:42259400-42262400	Weak transcription	NHLF	lung
31	chr15:42259600-42262000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr15:42259600-42262000	Weak transcription	Esophagus	oesophagus
33	chr15:42259600-42262000	Weak transcription	Gastric	stomach
34	chr15:42259600-42262000	Weak transcription	Pancreas	Pancrea
35	chr15:42259600-42262000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr15:42259600-42262000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr15:42259600-42262400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr15:42259800-42262200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr15:42259800-42262800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr15:42260000-42263200	Enhancers	Primary T cells from cord blood	blood
41	chr15:42260000-42263200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr15:42260000-42263600	Weak transcription	Brain Anterior Caudate	brain
43	chr15:42260200-42262000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr15:42260200-42262000	Weak transcription	Psoas Muscle	Psoas
45	chr15:42260200-42262800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr15:42260200-42262800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr15:42260400-42262000	Weak transcription	K562	blood
48	chr15:42260400-42262200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr15:42260400-42262200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr15:42260600-42262000	Enhancers	Duodenum Smooth Muscle	Duodenum

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