Variant report

Variant	rs74009228
Chromosome Location	chr15:43212177-43212178
allele	A/G
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	MAX	chr15:43212029-43212496	GM12878	blood:	n/a	n/a
2	TBP	chr15:43212132-43212533	K562	blood:	n/a	n/a
3	REST	chr15:43211967-43212311	H1-hESC	embryonic stem cell:	n/a	n/a
4	REST	chr15:43211715-43213741	H1-neurons	neurons:	n/a	chr15:43212748-43212761
5	ARID3A	chr15:43211757-43212427	HepG2	liver:	n/a	n/a
6	USF2	chr15:43212010-43212412	Hela-S3	cervix:	n/a	n/a
7	ZNF143	chr15:43212177-43213815	GM12878	blood:	n/a	chr15:43213270-43213288
8	POLR2A	chr15:43212027-43212265	HepG2	liver:	n/a	n/a
9	CEBPB	chr15:43212028-43212311	K562	blood:	n/a	n/a
10	MXI1	chr15:43211524-43213907	IMR90	lung:	n/a	chr15:43213036-43213045
11	TAF1	chr15:43211952-43212306	Hela-S3	cervix:	n/a	n/a
12	SIN3A	chr15:43211942-43213980	H1-hESC	embryonic stem cell:	n/a	chr15:43212902-43212911
13	MAZ	chr15:43212018-43213676	K562	blood:	n/a	n/a
14	ZC3H11A	chr15:43212169-43212207	K562	blood:	n/a	n/a
15	MAX	chr15:43212016-43213444	K562	blood:	n/a	n/a
16	MXI1	chr15:43211626-43212581	Hela-S3	cervix:	n/a	n/a
17	UBTF	chr15:43212007-43213444	K562	blood:	n/a	n/a
18	SIN3A	chr15:43211713-43212420	GM12878	blood:	n/a	n/a
19	POLR2A	chr15:43212124-43212219	K562	blood:	n/a	n/a
20	REST	chr15:43212009-43212324	H1-hESC	embryonic stem cell:	n/a	n/a
21	MXI1	chr15:43211606-43212482	GM12878	blood:	n/a	n/a
22	POLR2A	chr15:43211990-43212347	Hela-S3	cervix:	n/a	n/a
23	RCOR1	chr15:43211962-43213687	K562	blood:	n/a	n/a
24	POLR2A	chr15:43212097-43212240	HepG2	liver:	n/a	n/a
25	BHLHE40	chr15:43212105-43212527	K562	blood:	n/a	n/a
26	EP300	chr15:43212091-43212258	K562	blood:	n/a	chr15:43212196-43212206
27	REST	chr15:43211971-43212325	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr15:43212005-43213511	Hela-S3	cervix:	n/a	n/a
29	HCFC1	chr15:43211128-43214248	Hela-S3	cervix:	n/a	n/a
30	REST	chr15:43211876-43212361	HL-60	blood:	n/a	n/a
31	CEBPB	chr15:43212017-43212296	HepG2	liver:	n/a	n/a
32	POLR2A	chr15:43212141-43212215	Gliobla	brain:	n/a	n/a
33	STAT3	chr15:43211989-43212256	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr15:43212165-43212224	Hela-S3	cervix:	n/a	n/a
35	MXI1	chr15:43211892-43213543	HepG2	liver:	n/a	chr15:43213036-43213045
36	RFX5	chr15:43212048-43212420	HepG2	liver:	n/a	n/a
37	REST	chr15:43212030-43212312	K562	blood:	n/a	n/a
38	POLR2A	chr15:43212019-43212259	HepG2	liver:	n/a	n/a
39	USF2	chr15:43212062-43212373	GM12878	blood:	n/a	n/a
40	MYC	chr15:43211626-43212314	MCF10A-Er-Src	breast:	n/a	n/a
41	JUN	chr15:43211893-43213884	K562	blood:	n/a	chr15:43212243-43212252
42	POLR2A	chr15:43211957-43212425	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr15:43211975-43212578	MCF10A-Er-Src	breast:	n/a	n/a
44	JUND	chr15:43212059-43212370	K562	blood:	n/a	chr15:43212243-43212252
45	REST	chr15:43211980-43212228	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr15:43212106-43212318	ProgFib	skin:	n/a	n/a
47	HMGN3	chr15:43212020-43213491	K562	blood:	n/a	n/a
48	MAFK	chr15:43212081-43212268	K562	blood:	n/a	n/a
49	POLR2A	chr15:43211916-43212515	H1-neurons	neurons:	n/a	n/a
50	MAX	chr15:43211592-43213539	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43029256..43031403-chr15:43210732..43214178,4	K562	blood:
2	chr15:43032504..43034009-chr15:43211732..43214005,2	MCF-7	breast:

Variant related genes	Relation type
TTBK2	TF binding region
ENSG00000140326	Chromatin interaction
ENSG00000246283	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56867264	1.00[AMR][1000 genomes]
rs56867668	1.00[AMR][1000 genomes]
rs57481952	1.00[AMR][1000 genomes]
rs59604593	1.00[AMR][1000 genomes]
rs59913051	1.00[AMR][1000 genomes]
rs74009211	1.00[AMR][1000 genomes]
rs74009217	1.00[AMR][1000 genomes]
rs74009222	1.00[AMR][1000 genomes]
rs74009224	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050128	chr15:43056145-43262736	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542368	chr15:43056145-43262736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv904134	chr15:43097652-43357406	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv904135	chr15:43143998-43392075	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1036512	chr15:43164906-43274531	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv569239	chr15:43201109-43392075	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv1039587	chr15:43204351-43378274	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43210400-43212400	Flanking Active TSS	Dnd41	blood
2	chr15:43210600-43212200	Flanking Active TSS	NHEK	skin
3	chr15:43210600-43212400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:43210600-43212400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:43210600-43213400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr15:43210800-43212200	Weak transcription	Lung	lung
7	chr15:43210800-43213400	Active TSS	HMEC	breast
8	chr15:43211400-43212200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr15:43211400-43212200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:43211400-43212200	Flanking Active TSS	GM12878-XiMat	blood
11	chr15:43211400-43212200	Flanking Active TSS	K562	blood
12	chr15:43211400-43212200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr15:43211400-43212400	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr15:43211400-43212400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr15:43211400-43212400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:43211400-43212400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:43211400-43212400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr15:43211400-43212400	Flanking Active TSS	HUVEC	blood vessel
19	chr15:43211400-43213000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:43211400-43213400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr15:43211400-43213400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:43211400-43213400	Active TSS	NHLF	lung
23	chr15:43211400-43213600	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr15:43211400-43213800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:43211400-43214000	Active TSS	NHDF-Ad	bronchial
26	chr15:43211600-43212200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr15:43211600-43212200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:43211600-43212200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr15:43211600-43212200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr15:43211600-43212200	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr15:43211600-43212200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr15:43211600-43212200	Flanking Active TSS	Fetal Kidney	kidney
33	chr15:43211600-43212200	Flanking Active TSS	Fetal Lung	lung
34	chr15:43211600-43212200	Enhancers	Spleen	Spleen
35	chr15:43211600-43212200	Flanking Active TSS	Hela-S3	cervix
36	chr15:43211600-43212200	Flanking Active TSS	Osteobl	bone
37	chr15:43211600-43212400	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr15:43211600-43212400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr15:43211600-43212400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr15:43211600-43212400	Flanking Active TSS	Liver	Liver
41	chr15:43211600-43212400	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr15:43211600-43212400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr15:43211600-43213400	Active TSS	Fetal Muscle Trunk	muscle
44	chr15:43211600-43213400	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr15:43211600-43213400	Active TSS	NH-A	brain
46	chr15:43211600-43213600	Active TSS	H1 Cell Line	embryonic stem cell
47	chr15:43211600-43213800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr15:43211600-43213800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:43211600-43213800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr15:43211600-43213800	Active TSS	HSMMtube	muscle

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