Variant report

Variant	rs6434184
Chromosome Location	chr2:187379633-187379634
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187378179..187380116-chr2:187380297..187381882,2	K562	blood:
2	chr2:187374448..187380167-chr2:187454386..187459436,9	MCF-7	breast:
3	chr2:187378645..187382692-chr2:187454130..187456514,4	MCF-7	breast:
4	chr2:187369033..187372134-chr2:187377383..187380441,5	K562	blood:

Variant related genes	Relation type
ENSG00000065548	Chromatin interaction
ENSG00000138448	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10172850	0.80[ASN][1000 genomes]
rs10192067	0.86[ASN][1000 genomes]
rs12473076	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12476313	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12612249	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12614800	0.84[AMR][1000 genomes]
rs12615675	0.82[AMR][1000 genomes]
rs12998229	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12999247	0.88[ASN][1000 genomes]
rs12999438	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13003337	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13011581	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13017038	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13018154	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13025505	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13029766	0.84[ASN][1000 genomes]
rs13029818	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13029980	0.82[AMR][1000 genomes]
rs13030324	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1451874	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1470230	0.80[ASN][1000 genomes]
rs2084485	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2084486	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2122087	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2305409	0.80[ASN][1000 genomes]
rs3768775	0.80[ASN][1000 genomes]
rs3768776	0.80[ASN][1000 genomes]
rs4144785	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4144786	0.80[ASN][1000 genomes]
rs4666703	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4666705	0.80[ASN][1000 genomes]
rs4667090	0.82[AMR][1000 genomes]
rs4667092	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4667095	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4667100	0.80[ASN][1000 genomes]
rs4667101	0.80[ASN][1000 genomes]
rs4667102	0.80[ASN][1000 genomes]
rs4667103	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6434179	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6434182	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6434183	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6712627	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6734700	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6741184	0.80[ASN][1000 genomes]
rs6754179	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7568700	0.85[ASN][1000 genomes]
rs7573296	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7576323	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7581081	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7581978	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7586276	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7593093	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7597285	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs988110	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv459988	chr2:187364878-187440683	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv584031	chr2:187364878-187440683	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187357400-187383000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:187357600-187382600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:187357600-187386200	Strong transcription	Dnd41	blood
4	chr2:187358600-187385800	Weak transcription	Esophagus	oesophagus
5	chr2:187359600-187386400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:187359800-187379800	Strong transcription	HSMM	muscle
7	chr2:187359800-187380400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:187359800-187381400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr2:187359800-187387200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:187360000-187386800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:187361200-187385600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:187361400-187389200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:187363000-187385600	Weak transcription	Aorta	Aorta
14	chr2:187363000-187387800	Weak transcription	Pancreas	Pancrea
15	chr2:187363000-187408800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:187363200-187397600	Weak transcription	Small Intestine	intestine
17	chr2:187367200-187385600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:187367200-187396800	Weak transcription	Gastric	stomach
19	chr2:187367200-187405800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:187369200-187383400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:187370800-187385600	Weak transcription	Fetal Stomach	stomach
22	chr2:187370800-187385600	Weak transcription	Spleen	Spleen
23	chr2:187370800-187385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:187370800-187385800	Weak transcription	Lung	lung
25	chr2:187370800-187386800	Weak transcription	Stomach Mucosa	stomach
26	chr2:187371000-187385800	Weak transcription	Thymus	Thymus
27	chr2:187371000-187389400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:187371000-187395800	Weak transcription	Fetal Heart	heart
29	chr2:187371000-187407800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:187371400-187385600	Weak transcription	Ovary	ovary
31	chr2:187372200-187390000	Weak transcription	Fetal Brain Male	brain
32	chr2:187373600-187385600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:187373600-187385600	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:187373600-187388000	Weak transcription	Psoas Muscle	Psoas
35	chr2:187373600-187395800	Weak transcription	HSMMtube	muscle
36	chr2:187373600-187397600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:187373800-187385800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:187373800-187385800	Weak transcription	Left Ventricle	heart
39	chr2:187373800-187386000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:187373800-187387000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:187373800-187387800	Weak transcription	Right Ventricle	heart
42	chr2:187373800-187390200	Weak transcription	Brain Anterior Caudate	brain
43	chr2:187374000-187379800	Weak transcription	Fetal Kidney	kidney
44	chr2:187374000-187380200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:187374000-187381800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:187374000-187385800	Weak transcription	Fetal Brain Female	brain
47	chr2:187374000-187388600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:187374200-187381600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:187374200-187386400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:187374200-187386600	Weak transcription	Colon Smooth Muscle	Colon

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