Variant report

Variant	rs851140
Chromosome Location	chr1:223405374-223405375
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	JUN	chr1:223405277-223407899	K562	blood:	n/a	chr1:223407081-223407090 chr1:223407468-223407477 chr1:223407285-223407297

No.	Distal block	Cell Line	Cell type
1	chr1:223395360..223400819-chr1:223404357..223407646,5	K562	blood:
2	chr1:223307471..223309121-chr1:223404472..223407072,2	MCF-7	breast:
3	chr1:223361935..223364100-chr1:223404912..223406820,2	K562	blood:
4	chr1:223398506..223401272-chr1:223405321..223406911,2	MCF-7	breast:
5	chr1:223375371..223378138-chr1:223404796..223406489,2	K562	blood:
6	chr1:223404846..223407473-chr1:223416172..223420942,6	K562	blood:

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

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1035104	1.00[ASN][1000 genomes]
rs11485987	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11485988	0.87[EUR][1000 genomes]
rs11488551	0.87[EUR][1000 genomes]
rs1417744	1.00[MEX][hapmap]
rs1640803	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs1773753	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2160152	1.00[EUR][1000 genomes]
rs2253649	1.00[MEX][hapmap]
rs2430407	0.86[EUR][1000 genomes]
rs2430408	0.86[EUR][1000 genomes]
rs2430409	0.86[EUR][1000 genomes]
rs2430410	0.87[EUR][1000 genomes]
rs3121256	0.87[EUR][1000 genomes]
rs34071437	0.86[EUR][1000 genomes]
rs34218350	0.86[EUR][1000 genomes]
rs35169648	0.87[EUR][1000 genomes]
rs35227692	0.86[EUR][1000 genomes]
rs35551279	0.86[EUR][1000 genomes]
rs35644560	0.87[EUR][1000 genomes]
rs35778136	0.86[EUR][1000 genomes]
rs3768284	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap]
rs4661283	0.87[EUR][1000 genomes]
rs4661284	0.87[EUR][1000 genomes]
rs5744122	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs5744135	1.00[JPT][hapmap]
rs5744138	1.00[JPT][hapmap]
rs5744139	1.00[JPT][hapmap]
rs5744140	1.00[JPT][hapmap]
rs5744143	1.00[JPT][hapmap]
rs5744149	1.00[JPT][hapmap]
rs5744167	1.00[MEX][hapmap]
rs712862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs712863	0.87[EUR][1000 genomes]
rs712865	0.87[EUR][1000 genomes]
rs73118176	0.87[EUR][1000 genomes]
rs73118177	0.87[EUR][1000 genomes]
rs73118181	0.87[EUR][1000 genomes]
rs73118186	0.87[EUR][1000 genomes]
rs73118187	0.87[EUR][1000 genomes]
rs73118190	0.87[EUR][1000 genomes]
rs73118193	0.87[EUR][1000 genomes]
rs73118194	0.87[EUR][1000 genomes]
rs73118198	0.87[EUR][1000 genomes]
rs73118201	0.87[EUR][1000 genomes]
rs73118202	0.87[EUR][1000 genomes]
rs73120203	0.87[EUR][1000 genomes]
rs73120204	0.87[EUR][1000 genomes]
rs73120207	0.87[EUR][1000 genomes]
rs73120219	0.87[EUR][1000 genomes]
rs73120224	0.87[EUR][1000 genomes]
rs73120229	0.87[EUR][1000 genomes]
rs73120232	0.87[EUR][1000 genomes]
rs73120236	0.86[EUR][1000 genomes]
rs73120250	0.86[EUR][1000 genomes]
rs73120253	0.86[EUR][1000 genomes]
rs73120257	0.86[EUR][1000 genomes]
rs73120261	0.86[EUR][1000 genomes]
rs73120265	0.86[EUR][1000 genomes]
rs73120267	0.86[EUR][1000 genomes]
rs73120269	0.86[EUR][1000 genomes]
rs73120297	0.86[EUR][1000 genomes]
rs73120300	0.96[ASN][1000 genomes]
rs825126	1.00[MEX][hapmap]
rs851144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs851145	0.86[EUR][1000 genomes]
rs851146	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs851147	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs851148	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs851150	0.86[EUR][1000 genomes]
rs851151	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs851152	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs851153	1.00[CEU][hapmap]
rs851154	0.86[EUR][1000 genomes]
rs851155	0.86[EUR][1000 genomes]
rs851156	1.00[EUR][1000 genomes]
rs851158	0.86[EUR][1000 genomes]
rs851163	0.87[EUR][1000 genomes]
rs851195	1.00[MEX][hapmap]
rs851197	1.00[MEX][hapmap]
rs851200	1.00[MEX][hapmap]
rs851209	0.91[ASN][1000 genomes]
rs851210	0.89[ASN][1000 genomes]
rs851211	0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs851215	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs860372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[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:47 , 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	chr1:223399800-223406800	Weak transcription	Esophagus	oesophagus
6	chr1:223400800-223408800	Enhancers	Fetal Thymus	thymus
7	chr1:223401800-223406800	Weak transcription	Ovary	ovary
8	chr1:223401800-223408400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:223401800-223408400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:223401800-223408400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr1:223402000-223408400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr1:223402200-223408400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:223402400-223406000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:223402400-223407800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr1:223402400-223408400	Enhancers	Thymus	Thymus
16	chr1:223402600-223407600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:223402600-223408400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:223402800-223408400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr1:223402800-223408400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:223403000-223408000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:223403200-223405400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:223403600-223406200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:223404000-223408400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr1:223404200-223406800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:223404200-223408200	Enhancers	HMEC	breast
26	chr1:223404200-223408400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr1:223404200-223408800	Enhancers	Primary T cells from cord blood	blood
28	chr1:223404400-223407000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:223404400-223408400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr1:223404600-223405800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr1:223404600-223406400	Weak transcription	HSMMtube	muscle
32	chr1:223404600-223406600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:223404600-223406800	Weak transcription	NHDF-Ad	bronchial
34	chr1:223404800-223405600	Weak transcription	HSMM	muscle
35	chr1:223404800-223406000	Weak transcription	NHEK	skin
36	chr1:223404800-223406400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:223404800-223406400	Weak transcription	NHLF	lung
38	chr1:223404800-223406600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:223405000-223406000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:223405000-223406400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:223405200-223405600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:223405200-223405600	Weak transcription	NH-A	brain
43	chr1:223405200-223406200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:223405200-223406200	Weak transcription	Osteobl	bone
45	chr1:223405200-223406400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:223405200-223406400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:223405200-223406400	Enhancers	K562	blood

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