Variant report

Variant	rs564891000
Chromosome Location	chr3:133970193-133970194
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	E2F6	chr3:133969607-133970228	A549	lung:	n/a	chr3:133969721-133969730 chr3:133969657-133969667 chr3:133969660-133969670 chr3:133969653-133969662 chr3:133969942-133969952
2	MAX	chr3:133969471-133970223	HepG2	liver:	n/a	chr3:133969859-133969866 chr3:133969855-133969864
3	MAX	chr3:133969514-133970197	A549	lung:	n/a	chr3:133969859-133969866 chr3:133969855-133969864
4	MAX	chr3:133969528-133970197	A549	lung:	n/a	chr3:133969859-133969866 chr3:133969855-133969864
5	HA-E2F1	chr3:133969596-133970201	MCF-7	breast:	n/a	chr3:133969721-133969730 chr3:133969657-133969667 chr3:133969660-133969670 chr3:133969653-133969662 chr3:133969942-133969952
6	REST	chr3:133969587-133970203	HL-60	blood:	n/a	chr3:133969639-133969659
7	MAX	chr3:133969534-133970202	HCT-116	colon:	n/a	chr3:133969859-133969866 chr3:133969855-133969864
8	REST	chr3:133969468-133970201	H1-neurons	neurons:	n/a	chr3:133969639-133969659
9	SIN3AK20	chr3:133969508-133970197	MCF-7	breast:	n/a	n/a
10	POLR2A	chr3:133968923-133970541	HepG2	liver:	n/a	n/a
11	MAX	chr3:133969452-133970193	HCT-116	colon:	n/a	chr3:133969859-133969866 chr3:133969855-133969864
12	MAX	chr3:133969540-133970223	H1-hESC	embryonic stem cell:	n/a	chr3:133969859-133969866 chr3:133969855-133969864
13	MAZ	chr3:133967660-133970200	IMR90	lung:	n/a	chr3:133969859-133969866 chr3:133969241-133969251 chr3:133969855-133969864
14	E2F6	chr3:133969560-133970229	H1-hESC	embryonic stem cell:	n/a	chr3:133969721-133969730 chr3:133969657-133969667 chr3:133969587-133969597 chr3:133969660-133969670 chr3:133969653-133969662 chr3:133969942-133969952
15	MXI1	chr3:133968447-133970339	SK-N-SH	brain:	n/a	n/a
16	MXI1	chr3:133968529-133970350	IMR90	lung:	n/a	n/a
17	POLR2A	chr3:133968711-133970213	MCF10A-Er-Src	breast:	n/a	n/a
18	HCFC1	chr3:133969484-133970305	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:133970158-133970208	T-47D	breast:	n/a
2	chr3:133970158-133970208	ovcar-3	ovarian:	n/a
3	chr3:133970158-133970208	MCF10A-Er-Src	breast:	n/a
4	chr3:133970158-133970208	Caco-2	colon:	n/a
5	chr3:133970158-133970208	AG09309	skin:	n/a
6	chr3:133970158-133970208	GM19239	blood:	n/a
7	chr3:133970158-133970208	A549	lung:	n/a
8	chr3:133970158-133970208	HIPEpiC	eye:	n/a
9	chr3:133970158-133970208	PFSK-1	brain:	n/a
10	chr3:133970158-133970208	SK-N-SH_RA	brain:	n/a
11	chr3:133970158-133970208	MCF-7	breast:	n/a
12	chr3:133970158-133970208	SK-N-MC	brain:	n/a
13	chr3:133970158-133970208	HRPEpiC	eye:	n/a
14	chr3:133970158-133970208	HMEC	breast:	n/a
15	chr3:133970158-133970208	HepG2	liver:	n/a
16	chr3:133970158-133970208	H1-hESC	embryonic stem cell:	embryo
17	chr3:133970158-133970208	HCT-116	colon:	n/a
18	chr3:133970158-133970208	AG04449	skin:	fetal
19	chr3:133970158-133970208	GM12891	blood:	n/a
20	chr3:133970158-133970208	SAEC	small airway:	n/a
21	chr3:133970158-133970208	NB4	blood:	n/a
22	chr3:133970158-133970208	NH-A	brain:	n/a
23	chr3:133970158-133970208	Hela-S3	cervix:	n/a
24	chr3:133970158-133970208	HCM	heart:	n/a
25	chr3:133970158-133970208	HRCEpiC	kidney:	n/a
26	chr3:133970158-133970208	U87	brain:	n/a
27	chr3:133970158-133970208	GM12878	blood:	n/a
28	chr3:133970158-133970208	IMR90	lung:	fetal
29	chr3:133970158-133970208	HNPCEpiC	eye:	n/a
30	chr3:133970158-133970208	ECC-1	luminal epithelium:	n/a
31	chr3:133970158-133970208	SK-N-SH	brain:	n/a
32	chr3:133970158-133970208	AG10803	skin:	n/a
33	chr3:133970158-133970208	NHBE	bronchial:	n/a
34	chr3:133970158-133970208	LNCaP	prostate:	n/a
35	chr3:133970158-133970208	AoSMC	blood vessel:	n/a
36	chr3:133970158-133970208	K562	blood:	n/a
37	chr3:133970158-133970208	HCPEpiC	choroid plexus:	n/a
38	chr3:133970158-133970208	BJ	skin:	n/a
39	chr3:133970158-133970208	PrEC	prostate:	n/a
40	chr3:133970158-133970208	NHDF-neo	bronchial:	n/a
41	chr3:133970158-133970208	HEK293	kidney:	embryo
42	chr3:133970158-133970208	GM12892	blood:	n/a
43	chr3:133970158-133970208	AG04450	lung:	fetal
44	chr3:133970158-133970208	NT2-D1	testis:	n/a
45	chr3:133970158-133970208	HUVEC	blood vessel:	n/a
46	chr3:133970158-133970208	CMK	blood:	n/a
47	chr3:133970158-133970208	HL-60	blood:	n/a
48	chr3:133970158-133970208	SKMC	muscle:	n/a
49	chr3:133970158-133970208	ProgFib	skin:	n/a
50	chr3:133970158-133970208	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:133969851..133972992-chr3:133976680..133979913,3	K562	blood:
2	chr3:133967562..133971327-chr3:134067822..134072418,4	MCF-7	breast:
3	chr3:133969328..133972317-chr3:134030794..134032589,3	MCF-7	breast:
4	chr3:133970115..133972265-chr3:133986843..133989271,2	MCF-7	breast:
5	chr3:133969854..133971498-chr3:134203715..134206373,2	K562	blood:
6	chr3:133969506..133971460-chr3:134202147..134204798,2	K562	blood:
7	chr12:15942011..15942548-chr3:133969611..133970273,2	Hela-S3	cervix:

Variant related genes	Relation type
RYK	TF binding region
RYK	CpG island
ENSG00000182923	Chromatin interaction
ENSG00000151491	Chromatin interaction
ENSG00000260633	Chromatin interaction
ENSG00000129055	Chromatin interaction
ENSG00000214289	Chromatin interaction
ENSG00000240006	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	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv1794616	chr3:133949713-133973731	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription 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	14 gene(s)	inside rSNPs	diseases
4	esv1798974	chr3:133949713-133973731	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv1802675	chr3:133949713-133973731	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv1815799	chr3:133949713-133973731	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
7	esv1819695	chr3:133949713-133973731	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	esv1822126	chr3:133949713-133973731	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	esv1839030	chr3:133949713-133973731	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
10	esv1799165	chr3:133959746-133973731	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	esv1803106	chr3:133959746-133973731	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
12	esv3406249	chr3:133968537-133970760	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
13	esv1792549	chr3:133969361-133973731	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
14	esv1798144	chr3:133969361-133973731	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
15	esv1838610	chr3:133969361-133973731	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
16	esv1842254	chr3:133969361-133973731	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133966600-133970200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:133967400-133970400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:133967600-133970200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:133967800-133970200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:133967800-133970200	Active TSS	A549	lung
6	chr3:133968000-133970200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr3:133968000-133970200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:133968000-133970200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:133968000-133970200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr3:133968000-133970200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:133968000-133970200	Active TSS	Fetal Intestine Small	intestine
12	chr3:133968000-133970200	Active TSS	Hela-S3	cervix
13	chr3:133968000-133970200	Active TSS	HSMMtube	muscle
14	chr3:133968000-133970200	Active TSS	K562	blood
15	chr3:133968000-133970400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr3:133968000-133970400	Active TSS	HepG2	liver
17	chr3:133968000-133970800	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr3:133968200-133970200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr3:133968200-133970200	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr3:133968200-133970200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr3:133968200-133970200	Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr3:133968200-133970200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:133968200-133970200	Active TSS	Aorta	Aorta
24	chr3:133968200-133970200	Active TSS	Brain Angular Gyrus	brain
25	chr3:133968200-133970200	Active TSS	Fetal Intestine Large	intestine
26	chr3:133968200-133970200	Active TSS	Fetal Thymus	thymus
27	chr3:133968200-133970200	Active TSS	Ovary	ovary
28	chr3:133968200-133970200	Active TSS	Psoas Muscle	Psoas
29	chr3:133968200-133970200	Active TSS	HMEC	breast
30	chr3:133968200-133970200	Active TSS	HSMM	muscle
31	chr3:133968200-133970200	Active TSS	NHDF-Ad	bronchial
32	chr3:133968200-133970600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:133968200-133970800	Active TSS	Right Ventricle	heart
34	chr3:133968400-133970200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:133968400-133970200	Active TSS	Colonic Mucosa	Colon
36	chr3:133968400-133970200	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr3:133968400-133970200	Active TSS	Fetal Muscle Trunk	muscle
38	chr3:133968400-133970200	Active TSS	Lung	lung
39	chr3:133968400-133970200	Active TSS	Pancreas	Pancrea
40	chr3:133968400-133970200	Active TSS	Placenta Amnion	Placenta Amnion
41	chr3:133968400-133970400	Active TSS	Fetal Brain Female	brain
42	chr3:133968400-133970400	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr3:133968400-133970800	Active TSS	NH-A	brain
44	chr3:133968600-133970200	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr3:133968600-133970200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:133968600-133970200	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr3:133968600-133970200	Active TSS	Muscle Satellite Cultured Cells	--
48	chr3:133968600-133970200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:133968600-133970200	Active TSS	Brain Cingulate Gyrus	brain
50	chr3:133968600-133970200	Active TSS	Brain Inferior Temporal Lobe	brain

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