Variant report

Variant	rs188105349
Chromosome Location	chr1:223886530-223886531
allele	A/G
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	CTCF	chr1:223885577-223886678	SK-N-SH	brain:	n/a	chr1:223886105-223886118 chr1:223886070-223886088
2	SMC3	chr1:223885563-223886572	SK-N-SH	brain:	n/a	chr1:223886108-223886118
3	CTCF	chr1:223885576-223886576	HCT-116	colon:	n/a	chr1:223886105-223886118 chr1:223886070-223886088
4	MAX	chr1:223885806-223886553	A549	lung:	n/a	chr1:223886072-223886081 chr1:223886071-223886082 chr1:223886070-223886083 chr1:223886071-223886082 chr1:223886072-223886081 chr1:223886071-223886082 chr1:223886071-223886081 chr1:223886072-223886081 chr1:223886071-223886081
5	RAD21	chr1:223885694-223886552	HCT-116	colon:	n/a	chr1:223886072-223886086
6	RAD21	chr1:223885583-223886545	SK-N-SH	brain:	n/a	chr1:223886072-223886086

No.	Distal block	Cell Line	Cell type
1	chr1:223885712..223886555-chr1:224518312..224518842,2	K562	blood:
2	chr1:223885662..223886577-chr1:223936613..223937522,3	MCF-7	breast:
3	chr1:223885668..223886563-chr1:224238061..224239140,4	K562	blood:
4	chr1:223886105..223888614-chr1:223940802..223943504,3	K562	blood:
5	chr1:223886106..223888847-chr1:223934489..223936535,2	K562	blood:
6	chr1:223885511..223886611-chr1:223936562..223937549,9	K562	blood:
7	chr1:223884772..223887549-chr1:223936018..223938654,2	MCF-7	breast:
8	chr1:223886322..223888614-chr1:223940802..223943504,2	K562	blood:
9	chr1:223884441..223887114-chr1:223935723..223937532,2	MCF-7	breast:
10	chr1:223885961..223896993-chr1:223898177..223910405,32	MCF-7	breast:
11	chr1:223885488..223886561-chr1:224644979..224645876,5	K562	blood:
12	chr1:223885792..223886704-chr1:223936418..223937470,7	MCF-7	breast:
13	chr1:223885860..223886535-chr1:223897110..223897633,2	MCF-7	breast:
14	chr1:223886106..223889532-chr1:223933715..223936535,3	K562	blood:

Variant related genes	Relation type
CAPN2	TF binding region
ENSG00000162909	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223881800-223887000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:223883600-223887800	Weak transcription	Fetal Intestine Small	intestine
3	chr1:223883800-223887600	Weak transcription	Fetal Intestine Large	intestine
4	chr1:223884000-223888400	Weak transcription	Right Atrium	heart
5	chr1:223884200-223887600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:223884200-223888000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:223884400-223887400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:223884400-223888400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:223884400-223888800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:223884400-223888800	Weak transcription	Pancreas	Pancrea
11	chr1:223884600-223886800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:223885600-223886600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr1:223885600-223886600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:223885600-223887400	Enhancers	A549	lung
15	chr1:223885600-223888400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:223885800-223886600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:223885800-223886600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:223885800-223886600	Enhancers	K562	blood
19	chr1:223885800-223886600	Enhancers	Osteobl	bone
20	chr1:223885800-223887400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:223885800-223887800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:223885800-223888600	Enhancers	NHDF-Ad	bronchial
23	chr1:223886000-223887800	Enhancers	NHEK	skin
24	chr1:223886000-223888400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:223886200-223886600	Enhancers	Dnd41	blood
26	chr1:223886200-223887200	Weak transcription	NHLF	lung
27	chr1:223886200-223888000	Enhancers	Hela-S3	cervix
28	chr1:223886200-223888400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:223886200-223888400	Enhancers	HMEC	breast
30	chr1:223886200-223888600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:223886200-223889400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:223886200-223889400	Enhancers	Placenta	Placenta
33	chr1:223886400-223887000	Weak transcription	HSMM	muscle
34	chr1:223886400-223887200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:223886400-223887200	Weak transcription	NH-A	brain
36	chr1:223886400-223887400	Weak transcription	Aorta	Aorta
37	chr1:223886400-223887800	Weak transcription	HUVEC	blood vessel
38	chr1:223886400-223888000	Weak transcription	Adipose Nuclei	Adipose
39	chr1:223886400-223888200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:223886400-223888400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:223886400-223888400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:223886400-223888400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:223886400-223888800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr1:223886400-223889000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:223886400-223890400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:223886400-223892400	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:223886400-223892400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr1:223886400-223892400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:223886400-223894200	Weak transcription	Brain Angular Gyrus	brain

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