Variant report

Variant	rs71422888
Chromosome Location	chr15:31683925-31683926
allele	GG/TA
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	chr15:31683917-31684151	ECC-1	luminal epithelium:	n/a	n/a
2	STAT3	chr15:31683874-31684206	MCF10A-Er-Src	breast:	n/a	chr15:31684060-31684074 chr15:31684008-31684020 chr15:31684062-31684071 chr15:31684063-31684072 chr15:31684061-31684072
3	MAX	chr15:31683882-31684859	A549	lung:	n/a	chr15:31684495-31684504
4	ZBTB7A	chr15:31683823-31684987	ECC-1	luminal epithelium:	n/a	chr15:31684363-31684372
5	ZBTB7A	chr15:31683914-31685012	ECC-1	luminal epithelium:	n/a	chr15:31684363-31684372
6	TEAD4	chr15:31683882-31684342	ECC-1	luminal epithelium:	n/a	n/a
7	STAT3	chr15:31683899-31684201	MCF10A-Er-Src	breast:	n/a	chr15:31684060-31684074 chr15:31684008-31684020 chr15:31684062-31684071 chr15:31684063-31684072 chr15:31684061-31684072
8	MAX	chr15:31683895-31684829	ECC-1	luminal epithelium:	n/a	chr15:31684495-31684504
9	TAF1	chr15:31683859-31684871	ECC-1	luminal epithelium:	n/a	n/a
10	ELF1	chr15:31683891-31684298	GM12878	blood:	n/a	chr15:31684173-31684185 chr15:31684015-31684027 chr15:31684205-31684217 chr15:31684172-31684181
11	RCOR1	chr15:31683794-31684899	IMR90	lung:	n/a	n/a
12	CHD1	chr15:31683886-31684914	IMR90	lung:	n/a	chr15:31684024-31684034
13	POLR2A	chr15:31683894-31684754	ECC-1	luminal epithelium:	n/a	n/a
14	E2F6	chr15:31683874-31684835	A549	lung:	n/a	chr15:31684175-31684184
15	RAD21	chr15:31683899-31684219	SK-N-SH_RA	brain:	n/a	chr15:31684184-31684197
16	MAZ	chr15:31683549-31685024	IMR90	lung:	n/a	chr15:31683612-31683622 chr15:31684495-31684504
17	MAX	chr15:31683850-31684931	A549	lung:	n/a	chr15:31684495-31684504
18	MXI1	chr15:31683925-31684914	IMR90	lung:	n/a	n/a
19	STAT3	chr15:31683878-31684228	MCF10A-Er-Src	breast:	n/a	chr15:31684060-31684074 chr15:31684008-31684020 chr15:31684062-31684071 chr15:31684063-31684072 chr15:31684061-31684072
20	E2F6	chr15:31683818-31684763	A549	lung:	n/a	chr15:31684175-31684184
21	STAT3	chr15:31683874-31684245	MCF10A-Er-Src	breast:	n/a	chr15:31684060-31684074 chr15:31684008-31684020 chr15:31684062-31684071 chr15:31684063-31684072 chr15:31684061-31684072
22	MXI1	chr15:31683883-31684920	SK-N-SH	brain:	n/a	n/a
23	E2F4	chr15:31683911-31684644	MCF10A-Er-Src	breast:	n/a	chr15:31684175-31684184

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:31682078..31683956-chr15:31730554..31733122,2	K562	blood:
2	chr15:31616992..31619470-chr15:31682984..31685911,2	K562	blood:

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

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
6	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
7	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
8	nsv903841	chr15:31616674-31697242	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv903842	chr15:31621321-31697242	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv456748	chr15:31621321-31697642	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv568801	chr15:31621321-31697642	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	esv1810782	chr15:31633161-31697642	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
13	nsv903843	chr15:31672947-31723279	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	esv3423388	chr15:31682185-31685233	Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv3341673	chr15:31682510-31685058	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31673600-31684000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr15:31674200-31684000	Weak transcription	Colonic Mucosa	Colon
3	chr15:31674600-31684000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr15:31675000-31684000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr15:31675200-31684000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr15:31675800-31684000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr15:31677000-31684000	Weak transcription	Gastric	stomach
8	chr15:31680400-31684000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:31680400-31684000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:31680400-31684000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr15:31680400-31684000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:31680400-31684000	Weak transcription	Brain Anterior Caudate	brain
13	chr15:31680400-31684000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr15:31680400-31684000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr15:31680400-31684000	Weak transcription	Brain Substantia Nigra	brain
16	chr15:31680400-31684000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr15:31680400-31684000	Weak transcription	Esophagus	oesophagus
18	chr15:31680400-31684200	Weak transcription	Spleen	Spleen
19	chr15:31680600-31684000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr15:31680600-31684000	Weak transcription	Liver	Liver
21	chr15:31680600-31684000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr15:31680600-31684000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr15:31680600-31684000	Weak transcription	GM12878-XiMat	blood
24	chr15:31680600-31684000	Weak transcription	Hela-S3	cervix
25	chr15:31680800-31684000	Weak transcription	Primary T cells from cord blood	blood
26	chr15:31680800-31684000	Weak transcription	Pancreas	Pancrea
27	chr15:31680800-31684000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr15:31680800-31684000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr15:31680800-31684000	Weak transcription	HMEC	breast
30	chr15:31680800-31684000	Weak transcription	Osteobl	bone
31	chr15:31680800-31684200	Weak transcription	Dnd41	blood
32	chr15:31681200-31684000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr15:31682800-31684000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr15:31682800-31684000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr15:31683000-31684000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr15:31683200-31684000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:31683200-31684000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr15:31683200-31684000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr15:31683200-31684000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr15:31683200-31684000	Weak transcription	Lung	lung
41	chr15:31683200-31684000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr15:31683200-31684000	Weak transcription	NH-A	brain
43	chr15:31683200-31684200	Weak transcription	Fetal Heart	heart
44	chr15:31683400-31684000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:31683400-31684000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:31683400-31685400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr15:31683600-31684000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr15:31683600-31685200	Active TSS	Right Ventricle	heart
49	chr15:31683600-31685400	Active TSS	NHEK	skin
50	chr15:31683800-31684000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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