Variant report

Variant	rs567830565
Chromosome Location	chr1:223899555-223899556
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	TCF12	chr1:223899452-223900449	A549	lung:	n/a	chr1:223899873-223899883
2	JUND	chr1:223899525-223900640	SK-N-SH	brain:	n/a	chr1:223900208-223900219
3	POLR2A	chr1:223899527-223902278	U87	brain:	n/a	n/a
4	RAD21	chr1:223899365-223901256	SK-N-SH	brain:	n/a	chr1:223900071-223900084 chr1:223900073-223900085 chr1:223900278-223900291
5	POLR2A	chr1:223899498-223900520	PANC-1	pancreas:	n/a	n/a
6	CBX3	chr1:223899367-223900587	K562	blood:	n/a	n/a
7	POLR2A	chr1:223898708-223906948	U87	brain:	n/a	n/a
8	MAX	chr1:223899420-223902296	A549	lung:	n/a	n/a
9	SP1	chr1:223899540-223900276	A549	lung:	n/a	n/a
10	POLR2A	chr1:223899527-223905162	U87	brain:	n/a	n/a
11	MAX	chr1:223899539-223902027	A549	lung:	n/a	n/a
12	CTCF	chr1:223899540-223899690	BJ	skin:	n/a	n/a
13	POLR2A	chr1:223898702-223906954	U87	brain:	n/a	n/a
14	KAP1	chr1:223899523-223899945	K562	blood:	n/a	n/a
15	SMC3	chr1:223899451-223901103	SK-N-SH	brain:	n/a	n/a
16	CTCF	chr1:223899437-223902098	A549	lung:	n/a	n/a
17	TEAD4	chr1:223899538-223900425	K562	blood:	n/a	n/a
18	MAZ	chr1:223899497-223901003	IMR90	lung:	n/a	n/a
19	MXI1	chr1:223899532-223902274	IMR90	lung:	n/a	n/a
20	CTCF	chr1:223899520-223899670	AG09309	skin:	n/a	n/a
21	ATF3	chr1:223899542-223900397	K562	blood:	n/a	chr1:223900268-223900277
22	CTCF	chr1:223899443-223901176	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr1:223899536-223901747	GM12892	blood:	n/a	n/a
24	RCOR1	chr1:223899487-223900575	IMR90	lung:	n/a	n/a
25	FOSL2	chr1:223899485-223900436	A549	lung:	n/a	n/a
26	GATA3	chr1:223899545-223900273	T-47D	breast:	n/a	chr1:223899617-223899630
27	REST	chr1:223899404-223901010	H1-neurons	neurons:	n/a	chr1:223900921-223900931 chr1:223900161-223900171 chr1:223900059-223900069 chr1:223900329-223900342 chr1:223900670-223900680 chr1:223900063-223900072
28	MAX	chr1:223899402-223902316	HCT-116	colon:	n/a	n/a
29	MAX	chr1:223899555-223901925	K562	blood:	n/a	n/a
30	CBX3	chr1:223899494-223899941	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:223886668..223890344-chr1:223897746..223900327,3	K562	blood:
2	chr1:223898558..223902080-chr1:223957242..223958839,3	K562	blood:
3	chr1:223882393..223884567-chr1:223898139..223900023,2	MCF-7	breast:
4	chr1:223897551..223903480-chr1:224031634..224036730,7	K562	blood:
5	chr1:223885961..223896993-chr1:223898177..223910405,32	MCF-7	breast:
6	chr1:223898558..223902031-chr1:223957339..223960421,3	K562	blood:
7	chr1:223897059..223902247-chr1:223935403..223939761,6	K562	blood:

Variant related genes	Relation type
CAPN2	TF binding region
ENSG00000143514	Chromatin interaction
ENSG00000162909	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	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv873213	chr1:223885843-223924236	Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	esv3344542	chr1:223899354-223901902	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223889000-223900000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:223892200-223899800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:223893400-223899600	Weak transcription	Fetal Kidney	kidney
4	chr1:223894000-223899800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:223894000-223899800	Enhancers	Fetal Intestine Large	intestine
6	chr1:223895600-223899600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:223895600-223899600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:223895600-223899800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:223895800-223899600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:223895800-223899600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:223895800-223899600	Weak transcription	Brain Anterior Caudate	brain
12	chr1:223895800-223899600	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:223895800-223899600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:223895800-223899600	Weak transcription	Right Ventricle	heart
15	chr1:223895800-223899600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:223896000-223899600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:223896000-223899600	Weak transcription	Aorta	Aorta
18	chr1:223896000-223899600	Weak transcription	Colonic Mucosa	Colon
19	chr1:223896000-223899600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:223896000-223899600	Weak transcription	Ovary	ovary
21	chr1:223896000-223899800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:223896000-223899800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr1:223896000-223899800	Weak transcription	Left Ventricle	heart
24	chr1:223896000-223899800	Weak transcription	Psoas Muscle	Psoas
25	chr1:223896000-223900000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:223896000-223900200	Weak transcription	Small Intestine	intestine
27	chr1:223896200-223899600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:223896800-223899800	Weak transcription	Placenta	Placenta
29	chr1:223897000-223899600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:223897000-223899600	Weak transcription	HSMM	muscle
31	chr1:223897000-223899600	Weak transcription	HSMMtube	muscle
32	chr1:223897200-223900000	Weak transcription	Lung	lung
33	chr1:223897600-223899800	Enhancers	Fetal Intestine Small	intestine
34	chr1:223897600-223899800	Enhancers	Fetal Lung	lung
35	chr1:223897600-223900200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:223898000-223899600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:223898200-223899600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr1:223898200-223899600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr1:223898400-223899600	Enhancers	Primary T cells fromperipheralblood	blood
40	chr1:223898400-223899800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:223898600-223899600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:223898600-223899600	Enhancers	Fetal Brain Female	brain
43	chr1:223898600-223899600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr1:223898600-223899600	Enhancers	Stomach Mucosa	stomach
45	chr1:223898600-223899800	Enhancers	Primary B cells from peripheral blood	blood
46	chr1:223898600-223899800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:223898600-223899800	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr1:223898600-223899800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:223898600-223899800	Enhancers	Fetal Heart	heart
50	chr1:223898600-223899800	Enhancers	Fetal Muscle Leg	muscle

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