Variant report

Variant	rs351220
Chromosome Location	chr15:74489153-74489154
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	TCF12	chr15:74488183-74489178	SK-N-SH	brain:	n/a	chr15:74488508-74488518
2	GATA3	chr15:74488282-74489164	SK-N-SH	brain:	n/a	n/a
3	RCOR1	chr15:74488252-74489888	IMR90	lung:	n/a	n/a
4	SMARCC1	chr15:74488413-74489529	Hela-S3	cervix:	n/a	n/a
5	EP300	chr15:74488237-74489188	A549	lung:	n/a	chr15:74488842-74488858
6	SIN3AK20	chr15:74488244-74489169	MCF-7	breast:	n/a	n/a
7	TCF7L2	chr15:74488392-74489182	Hela-S3	cervix:	n/a	chr15:74489154-74489168
8	GATA3	chr15:74488298-74489164	SK-N-SH	brain:	n/a	n/a
9	TFAP2C	chr15:74488347-74489370	Hela-S3	cervix:	n/a	n/a
10	SP1	chr15:74488354-74489176	HCT-116	colon:	n/a	n/a
11	MAZ	chr15:74488385-74489327	Hela-S3	cervix:	n/a	n/a
12	SP1	chr15:74488286-74489245	HCT-116	colon:	n/a	n/a
13	GATA3	chr15:74488267-74489235	A549	lung:	n/a	n/a
14	GTF2F1	chr15:74488441-74489254	Hela-S3	cervix:	n/a	n/a
15	SP1	chr15:74488316-74489172	A549	lung:	n/a	n/a
16	TCF12	chr15:74488216-74489197	A549	lung:	n/a	chr15:74488508-74488518
17	MAX	chr15:74488239-74489157	A549	lung:	n/a	n/a
18	EP300	chr15:74488338-74489158	A549	lung:	n/a	chr15:74488842-74488858
19	SP1	chr15:74488354-74489165	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74488727..74491632-chr15:74492213..74494817,3	MCF-7	breast:
2	chr15:74465310..74466081-chr15:74488442..74489174,2	K562	blood:
3	chr15:74489028..74490850-chr15:74509672..74512569,2	MCF-7	breast:

Variant related genes	Relation type
STRA6	TF binding region
ENSG00000137868	Chromatin interaction
ENSG00000129009	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10851870	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs351156	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs351219	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs351222	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs351223	0.90[ASN][1000 genomes]
rs351224	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833053	chr15:74360156-74555140	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1050884	chr15:74394983-74489413	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv833054	chr15:74457643-74625283	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv904345	chr15:74458181-74526596	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv904346	chr15:74458181-74548773	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv904347	chr15:74462629-74537101	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv904348	chr15:74462629-74542686	Genic enhancers Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74466200-74492800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr15:74469200-74491800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr15:74469400-74493200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:74470800-74492800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:74478600-74491400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:74480600-74491800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:74484000-74490000	Enhancers	HSMM	muscle
8	chr15:74485000-74489800	Enhancers	NH-A	brain
9	chr15:74485400-74493000	Weak transcription	Fetal Thymus	thymus
10	chr15:74485800-74491000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:74485800-74492600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr15:74486000-74490200	Enhancers	Esophagus	oesophagus
13	chr15:74486400-74491400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:74487400-74489600	Enhancers	Spleen	Spleen
15	chr15:74487400-74490200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:74487400-74491600	Genic enhancers	Placenta	Placenta
17	chr15:74487600-74489400	Enhancers	Lung	lung
18	chr15:74487600-74489600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:74487600-74489600	Enhancers	Fetal Muscle Leg	muscle
20	chr15:74487600-74489800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:74487600-74489800	Enhancers	Fetal Heart	heart
22	chr15:74487600-74492600	Weak transcription	GM12878-XiMat	blood
23	chr15:74487800-74489400	Enhancers	Fetal Lung	lung
24	chr15:74487800-74489800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:74487800-74492600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:74488000-74489400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr15:74488000-74491200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr15:74488000-74492600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr15:74488000-74492800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr15:74488200-74489200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:74488200-74489200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:74488200-74489200	Enhancers	Left Ventricle	heart
33	chr15:74488200-74489200	Enhancers	Ovary	ovary
34	chr15:74488200-74489200	Flanking Active TSS	Hela-S3	cervix
35	chr15:74488200-74489400	Enhancers	Right Atrium	heart
36	chr15:74488200-74489400	Enhancers	Osteobl	bone
37	chr15:74488200-74489600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr15:74488200-74489600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:74488200-74489600	Enhancers	Duodenum Mucosa	Duodenum
40	chr15:74488200-74490000	Enhancers	HSMMtube	muscle
41	chr15:74488200-74490400	Enhancers	Fetal Intestine Large	intestine
42	chr15:74488200-74490400	Genic enhancers	Fetal Intestine Small	intestine
43	chr15:74488200-74491600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr15:74488400-74489200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr15:74488400-74489200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:74488400-74489200	Enhancers	Gastric	stomach
47	chr15:74488400-74489200	Enhancers	Right Ventricle	heart
48	chr15:74488400-74489200	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr15:74488400-74489200	Bivalent Enhancer	Stomach Mucosa	stomach
50	chr15:74488400-74489400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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