Variant report

Variant	rs35209981
Chromosome Location	chr17:33868420-33868421
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	MAFK	chr17:33868000-33868605	K562	blood:	n/a	chr17:33868522-33868533
2	TBP	chr17:33867550-33868650	GM12878	blood:	n/a	n/a
3	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
4	IRF1	chr17:33867952-33868789	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
5	POLR2A	chr17:33867788-33868472	U87	brain:	n/a	n/a
6	JUND	chr17:33867996-33868443	K562	blood:	n/a	n/a
7	CUX1	chr17:33867987-33868496	K562	blood:	n/a	n/a
8	EP300	chr17:33867830-33868626	K562	blood:	n/a	chr17:33868256-33868270
9	FOS	chr17:33868068-33868497	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr17:33868357-33868491	HUVEC	blood vessel:	n/a	n/a
11	IRF1	chr17:33868026-33868563	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
12	FOS	chr17:33868031-33868740	HUVEC	blood vessel:	n/a	n/a
13	PRDM1	chr17:33868118-33868503	Hela-S3	cervix:	n/a	chr17:33868260-33868274 chr17:33868259-33868274
14	MAFF	chr17:33868104-33868431	K562	blood:	n/a	n/a
15	STAT3	chr17:33868238-33868462	MCF10A-Er-Src	breast:	n/a	chr17:33868261-33868272

No.	Distal block	Cell Line	Cell type
1	chr17:33868292..33870030-chr17:33881213..33883441,2	K562	blood:
2	chr17:33865333..33868494-chr17:33903936..33906030,4	K562	blood:
3	chr17:33463726..33465854-chr17:33866569..33869012,2	K562	blood:

Variant related genes	Relation type
ENSG00000267035	TF binding region
SLFN12L	TF binding region
ENSG00000006125	Chromatin interaction
ENSG00000108733	Chromatin interaction
ENSG00000073536	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12940584	0.85[AFR][1000 genomes]
rs17638076	0.85[AFR][1000 genomes]
rs35390377	1.00[AFR][1000 genomes]
rs4531775	0.85[AFR][1000 genomes]
rs61752107	0.85[AFR][1000 genomes]
rs71381464	0.85[AFR][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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33862800-33869400	Weak transcription	Spleen	Spleen
2	chr17:33866000-33869800	Enhancers	Lung	lung
3	chr17:33866600-33868600	Active TSS	Duodenum Mucosa	Duodenum
4	chr17:33866800-33868600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr17:33867000-33868600	Enhancers	Hela-S3	cervix
6	chr17:33867400-33868800	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr17:33867400-33868800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:33867600-33868600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr17:33867600-33868800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr17:33867600-33868800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr17:33867600-33869000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr17:33867600-33869000	Active TSS	Rectal Smooth Muscle	rectum
13	chr17:33867600-33869000	Flanking Active TSS	Dnd41	blood
14	chr17:33867800-33868600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:33867800-33868600	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr17:33867800-33868600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr17:33867800-33868600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:33867800-33868600	Active TSS	Adipose Nuclei	Adipose
19	chr17:33867800-33868800	Active TSS	GM12878-XiMat	blood
20	chr17:33867800-33868800	Flanking Active TSS	HUVEC	blood vessel
21	chr17:33867800-33869000	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr17:33867800-33869000	Active TSS	Right Atrium	heart
23	chr17:33868000-33868600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr17:33868000-33868600	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr17:33868000-33868600	Active TSS	Stomach Mucosa	stomach
26	chr17:33868000-33868600	Flanking Active TSS	K562	blood
27	chr17:33868000-33869000	Active TSS	Colonic Mucosa	Colon
28	chr17:33868200-33868600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr17:33868200-33868600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr17:33868200-33868600	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr17:33868200-33868600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr17:33868200-33868600	Active TSS	Liver	Liver
33	chr17:33868200-33868600	Active TSS	NHLF	lung
34	chr17:33868200-33868600	Active TSS	Osteobl	bone
35	chr17:33868200-33868800	Weak transcription	Small Intestine	intestine
36	chr17:33868200-33868800	Enhancers	NHDF-Ad	bronchial
37	chr17:33868400-33868600	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr17:33868400-33868600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr17:33868400-33868600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr17:33868400-33868600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr17:33868400-33868600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr17:33868400-33868600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
43	chr17:33868400-33868600	Flanking Active TSS	A549	lung
44	chr17:33868400-33868800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr17:33868400-33868800	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr17:33868400-33868800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr17:33868400-33868800	Bivalent Enhancer	Fetal Kidney	kidney
48	chr17:33868400-33868800	Weak transcription	Thymus	Thymus
49	chr17:33868400-33869000	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr17:33868400-33869000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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