Variant report

Variant	rs151236533
Chromosome Location	chr1:228604066-228604067
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:124)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:124 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:228603995-228604127	SK-N-SH_RA	brain:	n/a	n/a
2	CTCF	chr1:228603980-228604130	AG04449	skin:	n/a	n/a
3	CTCF	chr1:228604000-228604150	NHLF	lung:	n/a	n/a
4	CTCF	chr1:228603980-228604130	AG10803	skin:	n/a	n/a
5	TBP	chr1:228603924-228604262	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr1:228603974-228604166	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:228604065-228604324	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr1:228604000-228604150	BJ	skin:	n/a	n/a
9	CTCF	chr1:228604060-228604210	BJ	skin:	n/a	n/a
10	CTCF	chr1:228603980-228604130	HMEC	breast:	n/a	n/a
11	CTCF	chr1:228604000-228604150	GM12870	blood:	n/a	n/a
12	CTCF	chr1:228604001-228604123	HepG2	liver:	n/a	n/a
13	CTCF	chr1:228603960-228604110	GM12874	blood:	n/a	n/a
14	CTCF	chr1:228603920-228604070	HPF	lung:	n/a	n/a
15	CTCF	chr1:228603940-228604090	HVMF	connective:	n/a	n/a
16	CTCF	chr1:228603920-228604070	WI-38	lung:	n/a	n/a
17	CTCF	chr1:228604000-228604150	HEEpiC	esophagus:	n/a	n/a
18	CTCF	chr1:228603980-228604130	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr1:228603980-228604130	GM12870	blood:	n/a	n/a
20	CTCF	chr1:228603940-228604090	HRE	kidney:	n/a	n/a
21	CTCF	chr1:228603999-228604113	GM12891	blood:	n/a	n/a
22	CTCF	chr1:228603980-228604130	GM12865	blood:	n/a	n/a
23	CTCF	chr1:228603980-228604130	HVMF	connective:	n/a	n/a
24	CTCF	chr1:228603980-228604130	GM12867	blood:	n/a	n/a
25	CTCF	chr1:228604010-228604107	Pancreas_OC	pancreas:	n/a	n/a
26	MTA3	chr1:228603353-228604141	GM12878	blood:	n/a	n/a
27	MAX	chr1:228603787-228604364	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr1:228603980-228604130	NHEK	skin:	n/a	n/a
29	CTCF	chr1:228604060-228604210	GM12869	blood:	n/a	n/a
30	CTCF	chr1:228603980-228604130	HCFaa	heart:	n/a	n/a
31	CTCF	chr1:228604030-228604141	GM10266	blood:	n/a	n/a
32	CTCF	chr1:228604040-228604190	AG10803	skin:	n/a	n/a
33	MAZ	chr1:228603976-228604109	HepG2	liver:	n/a	n/a
34	CTCF	chr1:228603940-228604090	GM12864	blood:	n/a	n/a
35	CTCF	chr1:228603912-228604271	H1-hESC	embryonic stem cell:	n/a	chr1:228604197-228604218
36	CTCF	chr1:228603899-228604146	T-47D	breast:	n/a	n/a
37	CTCF	chr1:228604060-228604210	Caco-2	colon:	n/a	n/a
38	CHD1	chr1:228603938-228604183	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr1:228603940-228604090	GM12873	blood:	n/a	n/a
40	POLR2A	chr1:228603329-228604380	PANC-1	pancreas:	n/a	n/a
41	CTCF	chr1:228603960-228604110	GM12873	blood:	n/a	n/a
42	RAD21	chr1:228603927-228604254	H1-hESC	embryonic stem cell:	n/a	chr1:228604122-228604136 chr1:228604196-228604215
43	CTCF	chr1:228603960-228604110	HEEpiC	esophagus:	n/a	n/a
44	CTCF	chr1:228603975-228604156	NHEK	skin:	n/a	n/a
45	CTCF	chr1:228603960-228604110	GM12864	blood:	n/a	n/a
46	CTCF	chr1:228603848-228604264	H1-hESC	embryonic stem cell:	n/a	chr1:228604197-228604218
47	CTCF	chr1:228604040-228604190	GM12872	blood:	n/a	n/a
48	CTCF	chr1:228603940-228604090	HPF	lung:	n/a	n/a
49	CTCF	chr1:228604000-228604150	BE2_C	brain:	n/a	n/a
50	CTCF	chr1:228603940-228604090	AG09319	gingival:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228604037-228604087	GM12891	blood:	n/a
2	chr1:228604037-228604087	BJ	skin:	n/a
3	chr1:228604065-228604115	Hela-S3	cervix:	n/a
4	chr1:228604065-228604115	AG09319	gingival:	n/a
5	chr1:228604037-228604087	IMR90	lung:	fetal
6	chr1:228604065-228604115	ovcar-3	ovarian:	n/a
7	chr1:228604065-228604115	HAEpiC	amniotic membrane:	n/a
8	chr1:228604037-228604087	RPTEC	kidney:	n/a
9	chr1:228604037-228604087	NH-A	brain:	n/a
10	chr1:228604037-228604087	HCPEpiC	choroid plexus:	n/a
11	chr1:228604065-228604115	AG04449	skin:	fetal
12	chr1:228604065-228604115	GM12891	blood:	n/a
13	chr1:228604065-228604115	HEK293	kidney:	embryo
14	chr1:228604065-228604115	K562	blood:	n/a
15	chr1:228604037-228604087	HPAEpiC	pulmonary alveolar:	n/a
16	chr1:228604037-228604087	HEEpiC	esophagus:	n/a
17	chr1:228604037-228604087	PANC-1	pancreas:	n/a
18	chr1:228604065-228604115	SAEC	small airway:	n/a
19	chr1:228604037-228604087	HMEC	breast:	n/a
20	chr1:228604037-228604087	NB4	blood:	n/a
21	chr1:228604065-228604115	GM19239	blood:	n/a
22	chr1:228604065-228604115	BE2_C	brain:	n/a
23	chr1:228604037-228604087	HUVEC	blood vessel:	n/a
24	chr1:228604065-228604115	U87	brain:	n/a
25	chr1:228604065-228604115	CMK	blood:	n/a
26	chr1:228604037-228604087	NT2-D1	testis:	n/a
27	chr1:228604065-228604115	ProgFib	skin:	n/a
28	chr1:228604065-228604115	SKMC	muscle:	n/a
29	chr1:228604037-228604087	GM12892	blood:	n/a
30	chr1:228604065-228604115	HRCEpiC	kidney:	n/a
31	chr1:228604037-228604087	AG09319	gingival:	n/a
32	chr1:228604037-228604087	HL-60	blood:	n/a
33	chr1:228604037-228604087	U87	brain:	n/a
34	chr1:228604037-228604087	A549	lung:	n/a
35	chr1:228604037-228604087	AG10803	skin:	n/a
36	chr1:228604037-228604087	AoSMC	blood vessel:	n/a
37	chr1:228604037-228604087	MCF-7	breast:	n/a
38	chr1:228604065-228604115	AoSMC	blood vessel:	n/a
39	chr1:228604037-228604087	Caco-2	colon:	n/a
40	chr1:228604065-228604115	MCF10A-Er-Src	breast:	n/a
41	chr1:228604037-228604087	HRE	kidney:	n/a
42	chr1:228604037-228604087	ovcar-3	ovarian:	n/a
43	chr1:228604065-228604115	Hepatocyte	liver:	n/a
44	chr1:228604037-228604087	GM19239	blood:	n/a
45	chr1:228604065-228604115	NHDF-neo	bronchial:	n/a
46	chr1:228604037-228604087	ProgFib	skin:	n/a
47	chr1:228604037-228604087	ECC-1	luminal epithelium:	n/a
48	chr1:228604065-228604115	Caco-2	colon:	n/a
49	chr1:228604037-228604087	H1-hESC	embryonic stem cell:	embryo
50	chr1:228604065-228604115	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:228585219..228604537-chr1:228641966..228650471,45	MCF-7	breast:

No data

Variant related genes	Relation type
TRIM17	TF binding region
TRIM17	CpG island
ENSG00000266174	Chromatin interaction
ENSG00000181218	Chromatin interaction
ENSG00000196890	Chromatin interaction

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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228596400-228615400	Weak transcription	A549	lung
2	chr1:228603000-228605400	Enhancers	Lung	lung
3	chr1:228603400-228604200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr1:228603400-228604200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:228603400-228604200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:228603400-228604200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:228603400-228604200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
8	chr1:228603400-228604200	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
9	chr1:228603400-228604400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:228603400-228604400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
11	chr1:228603400-228604400	Bivalent Enhancer	Fetal Thymus	thymus
12	chr1:228603400-228605000	Enhancers	Gastric	stomach
13	chr1:228603600-228604200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:228603600-228604200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr1:228603600-228604200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:228603600-228604200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:228603600-228604200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:228603600-228604200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:228603600-228604200	Bivalent Enhancer	Liver	Liver
20	chr1:228603600-228604200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
21	chr1:228603600-228604200	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
22	chr1:228603600-228604200	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
23	chr1:228603600-228604200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
24	chr1:228603600-228604200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
25	chr1:228603600-228604200	Flanking Bivalent TSS/Enh	Placenta	Placenta
26	chr1:228603600-228604200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr1:228603600-228604200	Flanking Active TSS	HepG2	liver
28	chr1:228603600-228604400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr1:228603600-228604400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
30	chr1:228603600-228604400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
31	chr1:228603600-228604400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:228603600-228604400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:228603600-228604400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
34	chr1:228603600-228604400	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
35	chr1:228603600-228604400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
36	chr1:228603600-228604400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr1:228603600-228604400	Bivalent Enhancer	Stomach Mucosa	stomach
38	chr1:228603600-228604400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
39	chr1:228603600-228604400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
40	chr1:228603600-228604600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
41	chr1:228603600-228604600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr1:228603600-228604600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:228603600-228604600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:228603600-228604600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
45	chr1:228603600-228604800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
46	chr1:228603600-228605000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
47	chr1:228603600-228605000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
48	chr1:228603600-228605200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr1:228603800-228604200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr1:228603800-228604200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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