Variant report

Variant	rs1007259
Chromosome Location	chr17:16395979-16395980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr17:16395486-16396004	GM12878	blood:	n/a	chr17:16395574-16395583
2	E2F6	chr17:16395365-16396146	A549	lung:	n/a	chr17:16395667-16395677 chr17:16395631-16395643 chr17:16395630-16395641
3	SIN3A	chr17:16395630-16396014	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZBTB7A	chr17:16395551-16396066	ECC-1	luminal epithelium:	n/a	chr17:16395670-16395679
5	MAX	chr17:16395456-16396662	H1-hESC	embryonic stem cell:	n/a	chr17:16395674-16395684
6	MAX	chr17:16395002-16396156	A549	lung:	n/a	chr17:16395674-16395684
7	ZBTB7A	chr17:16395550-16395991	ECC-1	luminal epithelium:	n/a	chr17:16395670-16395679
8	MAX	chr17:16395939-16396429	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr17:16395537-16396402	H1-hESC	embryonic stem cell:	n/a	chr17:16395674-16395684
10	E2F6	chr17:16395451-16396570	H1-hESC	embryonic stem cell:	n/a	chr17:16395667-16395677 chr17:16395631-16395643 chr17:16395630-16395641
11	E2F6	chr17:16395460-16396435	H1-hESC	embryonic stem cell:	n/a	chr17:16395667-16395677 chr17:16395631-16395643 chr17:16395630-16395641

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16395957-16396007	PANC-1	pancreas:	n/a
2	chr17:16395957-16396007	SK-N-MC	brain:	n/a
3	chr17:16395957-16396007	SKMC	muscle:	n/a
4	chr17:16395957-16396007	GM12878	blood:	n/a
5	chr17:16395957-16396007	HNPCEpiC	eye:	n/a
6	chr17:16395957-16396007	SAEC	small airway:	n/a
7	chr17:16395957-16396007	HRPEpiC	eye:	n/a
8	chr17:16395957-16396007	GM19239	blood:	n/a
9	chr17:16395957-16396007	HCF	heart:	n/a
10	chr17:16395957-16396007	HCM	heart:	n/a
11	chr17:16395957-16396007	ProgFib	skin:	n/a
12	chr17:16395957-16396007	H1-hESC	embryonic stem cell:	embryo
13	chr17:16395957-16396007	NT2-D1	testis:	n/a
14	chr17:16395957-16396007	AG09319	gingival:	n/a
15	chr17:16395957-16396007	HPAEpiC	pulmonary alveolar:	n/a
16	chr17:16395957-16396007	Hela-S3	cervix:	n/a
17	chr17:16395957-16396007	BJ	skin:	n/a
18	chr17:16395957-16396007	T-47D	breast:	n/a
19	chr17:16395957-16396007	HEEpiC	esophagus:	n/a
20	chr17:16395957-16396007	NH-A	brain:	n/a
21	chr17:16395957-16396007	HEK293	kidney:	embryo
22	chr17:16395957-16396007	HL-60	blood:	n/a
23	chr17:16395957-16396007	LNCaP	prostate:	n/a
24	chr17:16395957-16396007	U87	brain:	n/a
25	chr17:16395957-16396007	AG04449	skin:	fetal
26	chr17:16395957-16396007	NHBE	bronchial:	n/a
27	chr17:16395957-16396007	Jurkat	blood:	n/a
28	chr17:16395957-16396007	HMEC	breast:	n/a
29	chr17:16395957-16396007	A549	lung:	n/a
30	chr17:16395957-16396007	GM12891	blood:	n/a
31	chr17:16395957-16396007	K562	blood:	n/a
32	chr17:16395957-16396007	AG04450	lung:	fetal
33	chr17:16395957-16396007	Caco-2	colon:	n/a
34	chr17:16395957-16396007	AoSMC	blood vessel:	n/a
35	chr17:16395957-16396007	HepG2	liver:	n/a
36	chr17:16395957-16396007	ovcar-3	ovarian:	n/a
37	chr17:16395957-16396007	IMR90	lung:	fetal
38	chr17:16395957-16396007	PFSK-1	brain:	n/a
39	chr17:16395957-16396007	NB4	blood:	n/a
40	chr17:16395957-16396007	HCPEpiC	choroid plexus:	n/a
41	chr17:16395957-16396007	SK-N-SH	brain:	n/a
42	chr17:16395957-16396007	CMK	blood:	n/a
43	chr17:16395957-16396007	NHDF-neo	bronchial:	n/a
44	chr17:16395957-16396007	BE2_C	brain:	n/a
45	chr17:16395957-16396007	AG10803	skin:	n/a
46	chr17:16395957-16396007	MCF10A-Er-Src	breast:	n/a
47	chr17:16395957-16396007	Hepatocyte	liver:	n/a
48	chr17:16395957-16396007	SK-N-SH_RA	brain:	n/a
49	chr17:16395957-16396007	HUVEC	blood vessel:	n/a
50	chr17:16395957-16396007	ECC-1	luminal epithelium:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16116365..16119285-chr17:16395133..16397532,2	K562	blood:
2	chr17:16368821..16370735-chr17:16395780..16397972,2	K562	blood:

No data

Variant related genes	Relation type
FAM211A	TF binding region
FAM211A	CpG island
ENSG00000141027	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs34410887	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription 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 miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS 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	120 gene(s)	inside rSNPs	diseases
6	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv428668	chr17:16265210-16455285	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
9	nsv1063941	chr17:16357086-16424098	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
11	esv3323619	chr17:16394252-16396800	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv3344255	chr17:16394352-16396600	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv574494	chr17:16395083-16398555	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16394000-16396200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr17:16394200-16396000	Active TSS	Primary T cells from cord blood	blood
3	chr17:16394400-16396000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr17:16394400-16396000	Bivalent/Poised TSS	NHLF	lung
5	chr17:16394600-16396000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr17:16394600-16396000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:16394600-16396000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr17:16394600-16396000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:16394600-16396000	Active TSS	Brain Cingulate Gyrus	brain
10	chr17:16394600-16396200	Bivalent/Poised TSS	HepG2	liver
11	chr17:16394800-16396000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:16394800-16396000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr17:16394800-16396000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr17:16394800-16396000	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr17:16394800-16396000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr17:16394800-16396000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr17:16394800-16396000	Active TSS	Duodenum Mucosa	Duodenum
18	chr17:16394800-16396000	Active TSS	Ovary	ovary
19	chr17:16394800-16396000	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr17:16394800-16396000	Active TSS	Hela-S3	cervix
21	chr17:16394800-16396000	Bivalent/Poised TSS	HSMM	muscle
22	chr17:16394800-16396200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr17:16394800-16396200	Active TSS	Brain Angular Gyrus	brain
24	chr17:16394800-16396200	Active TSS	Brain Anterior Caudate	brain
25	chr17:16394800-16396200	Active TSS	Colon Smooth Muscle	Colon
26	chr17:16394800-16396200	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr17:16394800-16396200	Active TSS	Rectal Smooth Muscle	rectum
28	chr17:16394800-16396600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr17:16395000-16396000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:16395000-16396000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr17:16395000-16396000	Active TSS	Brain Germinal Matrix	brain
32	chr17:16395000-16396000	Active TSS	Brain Hippocampus Middle	brain
33	chr17:16395000-16396000	Bivalent/Poised TSS	Fetal Stomach	stomach
34	chr17:16395000-16396000	Active TSS	Gastric	stomach
35	chr17:16395000-16396000	Active TSS	Placenta Amnion	Placenta Amnion
36	chr17:16395000-16396200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr17:16395000-16396200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr17:16395000-16396200	Active TSS	Fetal Brain Female	brain
39	chr17:16395000-16396200	Active TSS	Stomach Smooth Muscle	stomach
40	chr17:16395000-16396400	Active TSS	Brain Substantia Nigra	brain
41	chr17:16395200-16396000	Active TSS	Primary B cells from cord blood	blood
42	chr17:16395200-16396000	Active TSS	Left Ventricle	heart
43	chr17:16395200-16396000	Active TSS	Right Atrium	heart
44	chr17:16395600-16396000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr17:16395600-16396000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr17:16395600-16396000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr17:16395600-16396000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr17:16395600-16396000	Flanking Active TSS	Liver	Liver
49	chr17:16395600-16396000	Flanking Active TSS	Right Ventricle	heart
50	chr17:16395600-16396000	Bivalent/Poised TSS	NHEK	skin

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