Variant report

Variant	rs71355256
Chromosome Location	chr17:259248-259249
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	POLR2A	chr17:259243-260376	GM12892	blood:	n/a	n/a
2	POLR2A	chr17:259244-260348	Hela-S3	cervix:	n/a	n/a
3	E2F6	chr17:259183-260289	H1-hESC	embryonic stem cell:	n/a	chr17:260108-260117
4	E2F6	chr17:259231-260389	A549	lung:	n/a	chr17:260108-260117
5	MXI1	chr17:259097-261187	SK-N-SH	brain:	n/a	n/a
6	HCFC1	chr17:258900-260865	Hela-S3	cervix:	n/a	n/a
7	ETS1	chr17:259049-259960	A549	lung:	n/a	n/a
8	POLR2A	chr17:259242-260607	MCF-7	breast:	n/a	n/a
9	MTA3	chr17:259176-259977	GM12878	blood:	n/a	n/a
10	MAX	chr17:259171-261075	A549	lung:	n/a	n/a
11	SIN3AK20	chr17:259190-260598	MCF-7	breast:	n/a	n/a
12	REST	chr17:259197-260015	A549	lung:	n/a	n/a
13	POLR2A	chr17:258893-261120	Raji	blood:	n/a	n/a
14	POLR2A	chr17:259216-260798	HepG2	liver:	n/a	n/a
15	NRF1	chr17:258835-260793	SK-N-SH	brain:	n/a	chr17:259788-259799 chr17:260107-260121 chr17:260107-260118 chr17:259831-259842 chr17:260107-260116 chr17:260104-260118
16	POLR2A	chr17:259087-260425	SK-N-MC	brain:	n/a	n/a
17	TCF12	chr17:258930-260562	A549	lung:	n/a	chr17:260113-260123
18	POLR2A	chr17:259170-260240	GM12891	blood:	n/a	n/a
19	ATF3	chr17:259012-260308	A549	lung:	n/a	n/a
20	POLR2A	chr17:258977-260289	GM12878	blood:	n/a	n/a
21	POLR2A	chr17:259180-260333	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:200762..203553-chr17:257971..259770,2	MCF-7	breast:
2	chr17:252929..254789-chr17:257698..259428,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM101B-1	chr17:258988-259822	ENSG00000241525.3

Variant related genes	Relation type
C17orf97	TF binding region
ENSG00000181031	Chromatin interaction
ENSG00000262294	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061272	chr17:45835-402250	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1055810	chr17:45835-447712	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv907452	chr17:45835-463843	Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv948444	chr17:45835-505227	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1066240	chr17:45835-632905	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv917850	chr17:45835-632905	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv497809	chr17:45835-872980	Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
8	nsv917717	chr17:45835-880705	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS 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	45 gene(s)	inside rSNPs	diseases
9	nsv532634	chr17:50690-399339	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv530736	chr17:50690-504567	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv529728	chr17:50690-625475	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv1055732	chr17:50690-632905	Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv457627	chr17:51088-636822	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv573948	chr17:51088-636822	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv1057687	chr17:52934-438901	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
16	nsv1059113	chr17:52934-624791	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:256200-259400	Weak transcription	Colonic Mucosa	Colon
2	chr17:257400-260200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:257600-259400	Weak transcription	NHEK	skin
4	chr17:258000-259400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr17:258800-259400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr17:258800-259400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr17:258800-259600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr17:259000-259400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr17:259000-259400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr17:259000-259400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr17:259000-259400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr17:259000-259400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:259000-259400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr17:259000-259800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr17:259000-261200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr17:259200-259400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr17:259200-259400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:259200-259400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:259200-259400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr17:259200-259400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr17:259200-259400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr17:259200-259400	Enhancers	Primary hematopoietic stem cells	blood
23	chr17:259200-259400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr17:259200-259400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr17:259200-259400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr17:259200-259400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr17:259200-259400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr17:259200-259400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr17:259200-259400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr17:259200-259400	Enhancers	Adipose Nuclei	Adipose
31	chr17:259200-259400	Enhancers	Brain Hippocampus Middle	brain
32	chr17:259200-259400	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr17:259200-259400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr17:259200-259400	Enhancers	Brain Substantia Nigra	brain
35	chr17:259200-259400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr17:259200-259400	Enhancers	Fetal Brain Male	brain
37	chr17:259200-259400	Enhancers	Fetal Intestine Large	intestine
38	chr17:259200-259400	Enhancers	Fetal Intestine Small	intestine
39	chr17:259200-259400	Enhancers	Fetal Muscle Trunk	muscle
40	chr17:259200-259400	Enhancers	Fetal Thymus	thymus
41	chr17:259200-259400	Enhancers	Pancreas	Pancrea
42	chr17:259200-259400	Enhancers	Psoas Muscle	Psoas
43	chr17:259200-259400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr17:259200-259400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr17:259200-259400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr17:259200-259400	Active TSS	Stomach Smooth Muscle	stomach
47	chr17:259200-259400	Enhancers	HepG2	liver
48	chr17:259200-259400	Enhancers	HMEC	breast
49	chr17:259200-259400	Enhancers	K562	blood
50	chr17:259200-259600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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