Variant report

Variant	rs535575858
Chromosome Location	chr1:228604594-228604595
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:228604539-228604613	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr1:228603223-228605202	SK-N-SH	brain:	n/a	chr1:228603755-228603770

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228604566-228604616	HCPEpiC	choroid plexus:	n/a
2	chr1:228604566-228604616	CMK	blood:	n/a
3	chr1:228604566-228604616	AG09319	gingival:	n/a
4	chr1:228604566-228604616	Hepatocyte	liver:	n/a
5	chr1:228604566-228604616	HL-60	blood:	n/a
6	chr1:228604566-228604616	AG04449	skin:	fetal
7	chr1:228604566-228604616	HAEpiC	amniotic membrane:	n/a
8	chr1:228604566-228604616	MCF-7	breast:	n/a
9	chr1:228604566-228604616	NT2-D1	testis:	n/a
10	chr1:228604566-228604616	HEEpiC	esophagus:	n/a
11	chr1:228604566-228604616	PANC-1	pancreas:	n/a
12	chr1:228604566-228604616	BE2_C	brain:	n/a
13	chr1:228604566-228604616	Jurkat	blood:	n/a
14	chr1:228604566-228604616	NH-A	brain:	n/a
15	chr1:228604566-228604616	HIPEpiC	eye:	n/a
16	chr1:228604566-228604616	GM19239	blood:	n/a
17	chr1:228604566-228604616	PrEC	prostate:	n/a
18	chr1:228604566-228604616	U87	brain:	n/a
19	chr1:228604566-228604616	SKMC	muscle:	n/a
20	chr1:228604566-228604616	ovcar-3	ovarian:	n/a
21	chr1:228604566-228604616	AG09309	skin:	n/a
22	chr1:228604566-228604616	NHDF-neo	bronchial:	n/a
23	chr1:228604566-228604616	GM12891	blood:	n/a
24	chr1:228604566-228604616	HRPEpiC	eye:	n/a
25	chr1:228604566-228604616	H1-hESC	embryonic stem cell:	embryo
26	chr1:228604566-228604616	MCF10A-Er-Src	breast:	n/a
27	chr1:228604566-228604616	HCT-116	colon:	n/a
28	chr1:228604566-228604616	RPTEC	kidney:	n/a
29	chr1:228604566-228604616	ProgFib	skin:	n/a
30	chr1:228604566-228604616	NHBE	bronchial:	n/a
31	chr1:228604566-228604616	Hela-S3	cervix:	n/a
32	chr1:228604566-228604616	HepG2	liver:	n/a
33	chr1:228604566-228604616	GM12878	blood:	n/a
34	chr1:228604566-228604616	HRCEpiC	kidney:	n/a
35	chr1:228604566-228604616	GM06990	blood:	n/a
36	chr1:228604566-228604616	LNCaP	prostate:	n/a
37	chr1:228604566-228604616	HUVEC	blood vessel:	n/a
38	chr1:228604566-228604616	AG04450	lung:	fetal
39	chr1:228604566-228604616	SK-N-SH_RA	brain:	n/a
40	chr1:228604566-228604616	HRE	kidney:	n/a
41	chr1:228604566-228604616	NB4	blood:	n/a
42	chr1:228604566-228604616	HPAEpiC	pulmonary alveolar:	n/a
43	chr1:228604566-228604616	Caco-2	colon:	n/a
44	chr1:228604566-228604616	IMR90	lung:	fetal
45	chr1:228604566-228604616	HCF	heart:	n/a
46	chr1:228604566-228604616	T-47D	breast:	n/a
47	chr1:228604566-228604616	AoSMC	blood vessel:	n/a
48	chr1:228604566-228604616	K562	blood:	n/a
49	chr1:228604566-228604616	AG10803	skin:	n/a
50	chr1:228604566-228604616	SK-N-MC	brain:	n/a

No data

Variant related genes	Relation type
TRIM17	TF binding region
TRIM17	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS 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 miRNA target site	133 gene(s)	inside rSNPs	diseases
5	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	nsv873270	chr1:228442663-228699477	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1009891	chr1:228450763-228742676	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
8	nsv517545	chr1:228456147-228685999	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
9	nsv1013500	chr1:228459134-228849601	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
10	nsv470780	chr1:228464248-228606965	Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv873279	chr1:228494790-228681195	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
12	nsv873281	chr1:228505739-228656780	Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
13	esv1808261	chr1:228509427-228674518	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
14	esv2829948	chr1:228509427-228687948	Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
15	nsv508697	chr1:228540037-228622614	Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
16	nsv549296	chr1:228585837-228720480	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
17	esv3325014	chr1:228603354-228605902	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	esv3430608	chr1:228603354-228605902	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 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	chr1:228596400-228615400	Weak transcription	A549	lung
2	chr1:228603000-228605400	Enhancers	Lung	lung
3	chr1:228603400-228605000	Enhancers	Gastric	stomach
4	chr1:228603600-228604600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
5	chr1:228603600-228604600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr1:228603600-228604600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:228603600-228604600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:228603600-228604600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
9	chr1:228603600-228604800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
10	chr1:228603600-228605000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
11	chr1:228603600-228605000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
12	chr1:228603600-228605200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr1:228603800-228604600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:228603800-228604600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:228603800-228604600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:228603800-228604600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:228603800-228604600	Flanking Active TSS	Right Ventricle	heart
18	chr1:228603800-228604600	Bivalent/Poised TSS	Thymus	Thymus
19	chr1:228603800-228604800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr1:228603800-228604800	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr1:228603800-228604800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
22	chr1:228603800-228605000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr1:228603800-228605000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr1:228603800-228605000	Weak transcription	K562	blood
25	chr1:228603800-228605200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr1:228603800-228605200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr1:228603800-228605400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr1:228604000-228604600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:228604000-228604600	Active TSS	Ovary	ovary
30	chr1:228604000-228604600	Bivalent/Poised TSS	Psoas Muscle	Psoas
31	chr1:228604000-228604600	Active TSS	Right Atrium	heart
32	chr1:228604000-228604600	Bivalent/Poised TSS	Osteobl	bone
33	chr1:228604000-228604800	Active TSS	H1 Cell Line	embryonic stem cell
34	chr1:228604000-228604800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:228604000-228604800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:228604000-228604800	Active TSS	NHEK	skin
37	chr1:228604000-228605200	Bivalent Enhancer	Primary B cells from cord blood	blood
38	chr1:228604000-228605200	Bivalent Enhancer	Fetal Brain Male	brain
39	chr1:228604200-228604600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:228604200-228604600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:228604200-228604600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
42	chr1:228604200-228604600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
43	chr1:228604200-228604600	Active TSS	HepG2	liver
44	chr1:228604200-228604800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:228604200-228604800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:228604200-228604800	Bivalent Enhancer	Primary T cells from cord blood	blood
47	chr1:228604200-228604800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr1:228604200-228604800	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr1:228604200-228604800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:228604200-228604800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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