Variant report

Variant	rs1418151
Chromosome Location	chr1:223404483-223404484
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	EP300	chr1:223403286-223404495	SK-N-SH	brain:	n/a	n/a
2	NFIC	chr1:223403317-223404495	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223395360..223400819-chr1:223404357..223407646,5	K562	blood:
2	chr1:223307471..223309121-chr1:223404472..223407072,2	MCF-7	breast:

Variant related genes	Relation type
SUSD4	TF binding region
ENSG00000187554	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17517806	0.83[JPT][hapmap]
rs4661250	0.85[JPT][hapmap];0.83[MKK][hapmap]
rs712856	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223390400-223406400	Weak transcription	Gastric	stomach
2	chr1:223393200-223407800	Weak transcription	Brain Anterior Caudate	brain
3	chr1:223394600-223406800	Weak transcription	Pancreas	Pancrea
4	chr1:223396600-223408200	Weak transcription	Brain Angular Gyrus	brain
5	chr1:223399000-223404600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:223399800-223406800	Weak transcription	Esophagus	oesophagus
7	chr1:223400800-223404800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:223400800-223405200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:223400800-223408800	Enhancers	Fetal Thymus	thymus
10	chr1:223401000-223405000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:223401800-223404600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:223401800-223404800	Enhancers	Dnd41	blood
13	chr1:223401800-223406800	Weak transcription	Ovary	ovary
14	chr1:223401800-223408400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:223401800-223408400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr1:223401800-223408400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr1:223402000-223408400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:223402200-223405200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:223402200-223408400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:223402400-223405200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:223402400-223406000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:223402400-223407800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr1:223402400-223408400	Enhancers	Thymus	Thymus
24	chr1:223402600-223407600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:223402600-223408400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:223402800-223408400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr1:223402800-223408400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:223403000-223404800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:223403000-223404800	Enhancers	NHEK	skin
30	chr1:223403000-223408000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:223403200-223404600	Enhancers	NHDF-Ad	bronchial
32	chr1:223403200-223405400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:223403600-223406200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:223403800-223404600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr1:223403800-223404600	Flanking Active TSS	HSMM	muscle
36	chr1:223404000-223405200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:223404000-223408400	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr1:223404200-223404600	Enhancers	HSMMtube	muscle
39	chr1:223404200-223404800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:223404200-223404800	Enhancers	NHLF	lung
41	chr1:223404200-223405200	Weak transcription	K562	blood
42	chr1:223404200-223405200	Enhancers	NH-A	brain
43	chr1:223404200-223406800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:223404200-223408200	Enhancers	HMEC	breast
45	chr1:223404200-223408400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr1:223404200-223408800	Enhancers	Primary T cells from cord blood	blood
47	chr1:223404400-223405000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:223404400-223405200	Enhancers	Osteobl	bone
49	chr1:223404400-223407000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:223404400-223408400	Enhancers	Primary T helper cells PMA-I stimulated	--

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