Variant report

Variant	rs1470312
Chromosome Location	chr17:33867553-33867554
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	MTA3	chr17:33867539-33868305	GM12878	blood:	n/a	n/a
2	EBF1	chr17:33867549-33867986	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:33867473-33868330	GM12892	blood:	n/a	n/a
4	POLR2A	chr17:33867545-33868225	HL-60	blood:	n/a	n/a
5	POLR2A	chr17:33867532-33868013	GM12878	blood:	n/a	n/a
6	TBP	chr17:33867550-33868650	GM12878	blood:	n/a	n/a
7	IRF1	chr17:33867194-33868777	K562	blood:	n/a	chr17:33868262-33868273 chr17:33868261-33868275 chr17:33868255-33868276 chr17:33868257-33868271 chr17:33868260-33868272 chr17:33868260-33868272 chr17:33868258-33868272 chr17:33868259-33868272 chr17:33868261-33868271 chr17:33868260-33868277 chr17:33868261-33868272
8	POLR2A	chr17:33867491-33868334	GM12878	blood:	n/a	n/a
9	POLR2A	chr17:33867525-33868090	HL-60	blood:	n/a	n/a
10	SPI1	chr17:33867541-33868127	HL-60	blood:	n/a	n/a
11	POLR2A	chr17:33867478-33868382	GM12878	blood:	n/a	n/a
12	POLR2A	chr17:33867514-33868317	GM12892	blood:	n/a	n/a
13	CTCF	chr17:33867480-33867630	GM06990	blood:	n/a	n/a
14	MTA3	chr17:33867537-33868355	GM12878	blood:	n/a	n/a
15	POLR2A	chr17:33867474-33868399	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:33865333..33868494-chr17:33903936..33906030,4	K562	blood:
2	chr17:33463726..33465854-chr17:33866569..33869012,2	K562	blood:
3	chr17:33865333..33867975-chr17:33904009..33907160,3	K562	blood:
4	chr17:33865496..33867936-chr17:33913565..33917669,3	K562	blood:

Variant related genes	Relation type
SLFN12L	TF binding region
ENSG00000006125	Chromatin interaction
ENSG00000073536	Chromatin interaction
ENSG00000108733	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16971207	0.85[AMR][1000 genomes]
rs7223822	0.93[AMR][1000 genomes]
rs9897663	0.86[AMR][1000 genomes]
rs9901285	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055936	chr17:33327166-33884184	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv543317	chr17:33327166-33884184	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv574754	chr17:33841737-33881631	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer 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	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33862800-33869400	Weak transcription	Spleen	Spleen
2	chr17:33864200-33867800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr17:33864400-33867800	Weak transcription	Placenta	Placenta
4	chr17:33864400-33867800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr17:33864600-33867800	Weak transcription	Psoas Muscle	Psoas
6	chr17:33864600-33868000	Enhancers	Fetal Thymus	thymus
7	chr17:33864800-33867600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr17:33864800-33867600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr17:33864800-33867600	Weak transcription	Left Ventricle	heart
10	chr17:33864800-33867600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr17:33864800-33867800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr17:33864800-33867800	Weak transcription	Right Atrium	heart
13	chr17:33865200-33867600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:33865200-33867800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:33865400-33868000	Weak transcription	Fetal Stomach	stomach
16	chr17:33865600-33867600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:33865600-33867600	Weak transcription	NHDF-Ad	bronchial
18	chr17:33866000-33867800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr17:33866000-33868000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr17:33866000-33869800	Enhancers	Lung	lung
21	chr17:33866400-33867600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr17:33866400-33867600	Enhancers	Primary B cells from peripheral blood	blood
23	chr17:33866400-33867600	Enhancers	NHLF	lung
24	chr17:33866400-33867800	Enhancers	HUVEC	blood vessel
25	chr17:33866400-33868000	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr17:33866400-33868000	Enhancers	Stomach Mucosa	stomach
27	chr17:33866400-33868400	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr17:33866600-33867600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:33866600-33867600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:33866600-33867600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr17:33866600-33867600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr17:33866600-33867800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr17:33866600-33867800	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr17:33866600-33867800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr17:33866600-33868000	Bivalent Enhancer	Fetal Lung	lung
36	chr17:33866600-33868600	Active TSS	Duodenum Mucosa	Duodenum
37	chr17:33866800-33867600	Enhancers	Thymus	Thymus
38	chr17:33866800-33868000	Weak transcription	Ovary	ovary
39	chr17:33866800-33868000	Enhancers	HSMM	muscle
40	chr17:33866800-33868600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr17:33867000-33867600	Enhancers	Primary T cells fromperipheralblood	blood
42	chr17:33867000-33867600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr17:33867000-33867600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr17:33867000-33867600	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr17:33867000-33867600	Enhancers	Osteobl	bone
46	chr17:33867000-33867800	Enhancers	Primary hematopoietic stem cells	blood
47	chr17:33867000-33868000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr17:33867000-33868000	Weak transcription	Brain Hippocampus Middle	brain
49	chr17:33867000-33868000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr17:33867000-33868000	Enhancers	A549	lung

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