Variant report

Variant	rs4099181
Chromosome Location	chr5:112091704-112091705
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112018949..112022294-chr5:112089786..112092475,3	MCF-7	breast:
2	chr5:112079996..112082107-chr5:112090951..112092973,3	K562	blood:
3	chr5:112079996..112081734-chr5:112090951..112092973,2	K562	blood:
4	chr5:111881988..111883507-chr5:112090046..112093045,2	MCF-7	breast:
5	chr5:112026203..112028934-chr5:112090617..112094558,3	K562	blood:
6	chr5:112089718..112092112-chr5:112180535..112183405,2	K562	blood:

Variant related genes	Relation type
ENSG00000251014	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10071425	0.84[EUR][1000 genomes]
rs10073398	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10075281	0.81[CEU][hapmap]
rs10076641	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11241182	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs11241183	0.86[EUR][1000 genomes]
rs11241184	0.92[EUR][1000 genomes]
rs11241185	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs11749632	0.84[EUR][1000 genomes]
rs11749701	0.82[EUR][1000 genomes]
rs11954856	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12513804	0.93[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12518091	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs12656359	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12659119	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12719151	0.81[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs1441375	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs1465910	0.96[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1661035	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs1816769	0.96[CEU][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1914	0.82[CEU][hapmap]
rs1974786	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs2019720	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs2020383	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2289484	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs2431239	0.85[EUR][1000 genomes]
rs2431240	0.80[AMR][1000 genomes]
rs2431241	0.85[CEU][hapmap]
rs2431242	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2431512	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs2431514	0.81[EUR][1000 genomes]
rs2439589	0.85[EUR][1000 genomes]
rs2439591	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2464803	0.80[CEU][hapmap]
rs2545162	0.86[CHB][hapmap]
rs2545165	0.86[CHB][hapmap]
rs2546106	0.89[CEU][hapmap]
rs2546108	0.92[CEU][hapmap]
rs2546117	0.85[EUR][1000 genomes]
rs2707763	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs2707765	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs28578275	0.86[EUR][1000 genomes]
rs2900066	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2901844	0.85[EUR][1000 genomes]
rs2909786	0.96[CEU][hapmap];0.93[CHB][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2909787	0.96[CEU][hapmap];0.93[CHB][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2909958	0.93[CEU][hapmap];0.93[CHB][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2952615	0.86[CHB][hapmap]
rs35130225	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs351771	0.93[CHB][hapmap]
rs35414976	0.85[EUR][1000 genomes]
rs3846716	0.89[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs396321	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs41115	0.93[CHB][hapmap]
rs411356	0.93[CHB][hapmap]
rs414098	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs42427	0.93[CHB][hapmap]
rs458906	0.83[EUR][1000 genomes]
rs464002	0.86[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs464708	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs465899	0.93[CHB][hapmap]
rs467033	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs4705486	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs4705559	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs4705608	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs4705609	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4705610	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs4705624	0.86[EUR][1000 genomes]
rs4705815	0.81[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs4705816	0.81[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs544243	0.84[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs569940	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62364017	0.95[EUR][1000 genomes]
rs6594643	0.81[CEU][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6594644	0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6594646	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs6862050	0.82[CEU][hapmap]
rs6864688	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6867243	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6879057	0.85[EUR][1000 genomes]
rs6894351	0.96[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6898133	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7704618	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs861674	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs866006	0.86[CHB][hapmap]
rs9326862	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9326863	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs953916	0.82[EUR][1000 genomes]
rs9647582	0.86[EUR][1000 genomes]
rs9647583	0.85[EUR][1000 genomes]
rs971517	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462387	chr5:112053911-112124369	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv599393	chr5:112053911-112124369	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112074000-112095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:112074200-112093200	Weak transcription	Aorta	Aorta
3	chr5:112074400-112093200	Weak transcription	Right Ventricle	heart
4	chr5:112074400-112094000	Weak transcription	Fetal Intestine Small	intestine
5	chr5:112074400-112095200	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:112074400-112095600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:112074400-112095600	Weak transcription	Fetal Thymus	thymus
8	chr5:112074400-112095800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr5:112074400-112102800	Weak transcription	Fetal Stomach	stomach
10	chr5:112074400-112103400	Weak transcription	Left Ventricle	heart
11	chr5:112074400-112119800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:112074400-112125600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:112074400-112128600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:112074600-112103000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:112074800-112097600	Weak transcription	HMEC	breast
16	chr5:112075000-112093000	Weak transcription	Liver	Liver
17	chr5:112075000-112095200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:112075200-112092600	Weak transcription	HSMM	muscle
19	chr5:112075200-112094400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:112075200-112103000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:112075400-112097400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:112075400-112101600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:112075600-112095600	Weak transcription	Dnd41	blood
24	chr5:112075600-112095800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:112076000-112095400	Weak transcription	NH-A	brain
26	chr5:112076200-112097000	Weak transcription	NHLF	lung
27	chr5:112078000-112095800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:112078600-112093000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:112078600-112095800	Weak transcription	GM12878-XiMat	blood
30	chr5:112078800-112092000	Weak transcription	Fetal Brain Male	brain
31	chr5:112078800-112097200	Weak transcription	NHDF-Ad	bronchial
32	chr5:112079600-112128200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:112079800-112095600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr5:112079800-112128600	Weak transcription	Small Intestine	intestine
35	chr5:112080200-112095800	Weak transcription	K562	blood
36	chr5:112081200-112128600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr5:112084400-112103000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr5:112084600-112092800	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:112084600-112095200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:112084600-112103200	Weak transcription	Psoas Muscle	Psoas
41	chr5:112084800-112101000	Weak transcription	Pancreas	Pancrea
42	chr5:112086200-112093200	Weak transcription	Brain Angular Gyrus	brain
43	chr5:112086600-112095600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:112087200-112098200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr5:112087600-112117600	Weak transcription	Gastric	stomach
46	chr5:112088200-112093200	Weak transcription	HUVEC	blood vessel
47	chr5:112088200-112095200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr5:112088200-112095400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:112088200-112095800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr5:112088600-112091800	Weak transcription	Brain Hippocampus Middle	brain

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