Variant report

Variant	rs118075665
Chromosome Location	chr1:227164005-227164006
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF3	chr1:227163728-227164122	GM12878	blood:	n/a	n/a
2	TAF1	chr1:227163733-227164159	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:227163871-227164154	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:227163996-227164046	SK-N-SH_RA	brain:	n/a
2	chr1:227163996-227164046	SK-N-MC	brain:	n/a
3	chr1:227163996-227164046	HAEpiC	amniotic membrane:	n/a
4	chr1:227163996-227164046	NT2-D1	testis:	n/a
5	chr1:227163996-227164046	Hela-S3	cervix:	n/a
6	chr1:227163996-227164046	PANC-1	pancreas:	n/a
7	chr1:227163996-227164046	Hepatocyte	liver:	n/a
8	chr1:227163996-227164046	U87	brain:	n/a
9	chr1:227163996-227164046	HRPEpiC	eye:	n/a
10	chr1:227163996-227164046	NB4	blood:	n/a
11	chr1:227163996-227164046	GM19239	blood:	n/a
12	chr1:227163996-227164046	GM12891	blood:	n/a
13	chr1:227163996-227164046	RPTEC	kidney:	n/a
14	chr1:227163996-227164046	AG04450	lung:	fetal
15	chr1:227163996-227164046	HPAEpiC	pulmonary alveolar:	n/a
16	chr1:227163996-227164046	HepG2	liver:	n/a
17	chr1:227163996-227164046	K562	blood:	n/a
18	chr1:227163996-227164046	AG09319	gingival:	n/a
19	chr1:227163996-227164046	ECC-1	luminal epithelium:	n/a
20	chr1:227163996-227164046	HNPCEpiC	eye:	n/a
21	chr1:227163996-227164046	AoSMC	blood vessel:	n/a
22	chr1:227163996-227164046	SK-N-SH	brain:	n/a
23	chr1:227163996-227164046	HRCEpiC	kidney:	n/a
24	chr1:227163996-227164046	Jurkat	blood:	n/a
25	chr1:227163996-227164046	MCF10A-Er-Src	breast:	n/a
26	chr1:227163996-227164046	AG04449	skin:	fetal
27	chr1:227163996-227164046	NHDF-neo	bronchial:	n/a
28	chr1:227163996-227164046	IMR90	lung:	fetal
29	chr1:227163996-227164046	PrEC	prostate:	n/a
30	chr1:227163996-227164046	LNCaP	prostate:	n/a
31	chr1:227163996-227164046	NH-A	brain:	n/a
32	chr1:227163996-227164046	HEK293	kidney:	embryo
33	chr1:227163996-227164046	H1-hESC	embryonic stem cell:	embryo
34	chr1:227163996-227164046	HCPEpiC	choroid plexus:	n/a
35	chr1:227163996-227164046	HUVEC	blood vessel:	n/a
36	chr1:227163996-227164046	ovcar-3	ovarian:	n/a
37	chr1:227163996-227164046	SKMC	muscle:	n/a
38	chr1:227163996-227164046	AG10803	skin:	n/a
39	chr1:227163996-227164046	HIPEpiC	eye:	n/a
40	chr1:227163996-227164046	Caco-2	colon:	n/a
41	chr1:227163996-227164046	HCF	heart:	n/a
42	chr1:227163996-227164046	GM12892	blood:	n/a
43	chr1:227163996-227164046	HEEpiC	esophagus:	n/a
44	chr1:227163996-227164046	BJ	skin:	n/a
45	chr1:227163996-227164046	HCM	heart:	n/a
46	chr1:227163996-227164046	HMEC	breast:	n/a
47	chr1:227163996-227164046	PFSK-1	brain:	n/a
48	chr1:227163996-227164046	BE2_C	brain:	n/a
49	chr1:227163996-227164046	GM06990	blood:	n/a
50	chr1:227163996-227164046	NHBE	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:227158478..227161173-chr1:227162691..227164672,2	K562	blood:
2	chr1:227127948..227129868-chr1:227162930..227165927,2	MCF-7	breast:
3	chr1:227129763..227131276-chr1:227162634..227164932,2	K562	blood:

No data

Variant related genes	Relation type
ADCK3	TF binding region
ADCK3	CpG island
ENSG00000163050	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS 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	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv873236	chr1:227118912-227173537	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv873237	chr1:227118912-227178948	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv873238	chr1:227118912-227180858	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv520923	chr1:227127618-227178948	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv3435142	chr1:227163129-227165127	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227131000-227171800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:227147000-227177000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:227148600-227180800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:227154200-227164200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:227154400-227165800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
7	chr1:227154800-227176800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:227158400-227164600	Weak transcription	Dnd41	blood
9	chr1:227158400-227173200	Weak transcription	K562	blood
10	chr1:227158400-227174600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:227158400-227183000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:227159000-227175800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:227159800-227165800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:227159800-227174000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:227160000-227173600	Weak transcription	A549	lung
16	chr1:227160000-227174400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:227160000-227174400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:227160000-227174800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:227160000-227177200	Weak transcription	GM12878-XiMat	blood
20	chr1:227160200-227165200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:227160200-227165200	Enhancers	Liver	Liver
22	chr1:227160400-227164600	Enhancers	Right Atrium	heart
23	chr1:227160400-227164800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:227160400-227165200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:227160600-227165000	Enhancers	Right Ventricle	heart
26	chr1:227160600-227165400	Enhancers	Left Ventricle	heart
27	chr1:227160600-227165800	Enhancers	Psoas Muscle	Psoas
28	chr1:227160600-227175600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:227160800-227164200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr1:227160800-227164800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:227160800-227164800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:227160800-227181800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:227161000-227165000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:227161200-227164400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:227161200-227165400	Weak transcription	Primary B cells from cord blood	blood
36	chr1:227161600-227165400	Weak transcription	Fetal Brain Female	brain
37	chr1:227162200-227164400	Genic enhancers	Fetal Stomach	stomach
38	chr1:227162200-227164600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr1:227162200-227166600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:227162200-227169400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:227162200-227176000	Strong transcription	Primary T cells from cord blood	blood
42	chr1:227162400-227173600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:227162400-227174200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:227162400-227174200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:227162400-227175200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr1:227162400-227181600	Weak transcription	NHEK	skin
47	chr1:227162600-227174200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:227162600-227174200	Weak transcription	Aorta	Aorta
49	chr1:227162600-227175800	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:227162600-227176600	Strong transcription	Thymus	Thymus

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