Variant report

Variant	rs7168709
Chromosome Location	chr15:42679306-42679307
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42678390..42681163-chr15:42692112..42694875,2	K562	blood:
2	chr15:42559733..42563310-chr15:42678634..42681534,3	K562	blood:

Variant related genes	Relation type
ENSG00000092529	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1062038	0.81[CEU][hapmap];0.92[CHB][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10775126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10851407	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10851408	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10851409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11070370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1139100	0.91[EUR][1000 genomes]
rs11631917	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11631983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11638784	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12101559	0.81[CHB][hapmap]
rs12438369	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs12438453	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12438562	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12441642	1.00[CEU][hapmap]
rs12441700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12594162	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12917101	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1359003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1359004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1659212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1659213	0.91[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs1659217	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1659218	0.91[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs1659219	0.90[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs1659221	0.85[ASN][1000 genomes]
rs1659222	0.90[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs1678984	0.85[ASN][1000 genomes]
rs1678985	1.00[CEU][hapmap];0.92[CHB][hapmap]
rs1678986	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs1678992	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs1678993	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs1679012	0.91[CHB][hapmap]
rs1703750	1.00[CEU][hapmap];0.92[CHB][hapmap]
rs1703755	0.91[CEU][hapmap];0.92[CHB][hapmap]
rs1712418	1.00[CEU][hapmap];0.92[CHB][hapmap]
rs2138831	1.00[CEU][hapmap]
rs2289295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2407707	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2412682	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2412685	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2412705	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28364388	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28364390	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28364416	0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2918459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2918460	0.91[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs2918461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3743006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3850774	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4329897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4923940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4923943	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4924645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4924648	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4924653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4924658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4924660	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4924674	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56702977	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57002846	0.82[EUR][1000 genomes]
rs57347762	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58313689	0.83[EUR][1000 genomes]
rs59132828	0.87[EUR][1000 genomes]
rs6493027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6493045	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs677878	1.00[CEU][hapmap];0.90[CHB][hapmap]
rs7163986	0.81[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7166785	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7175863	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7177120	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7179709	0.91[CHB][hapmap];0.88[JPT][hapmap]
rs7181742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7183015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7183546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73400993	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs751572	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765830	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8024113	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8024732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8025601	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8026198	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8027283	0.83[CHB][hapmap]
rs8031315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8036187	1.00[CEU][hapmap];0.92[CHB][hapmap]
rs8036380	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8036596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8037020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9672382	0.85[ASN][1000 genomes]
rs9920921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv904133	chr15:42528982-42681057	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv832986	chr15:42587825-42753664	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv932995	chr15:42640015-42704121	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3334708	chr15:42664344-42827738	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42652800-42684400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr15:42653200-42691600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr15:42656800-42693400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr15:42656800-42697800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:42663000-42691400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:42672400-42688800	Weak transcription	Esophagus	oesophagus
7	chr15:42673400-42691800	Weak transcription	Primary T cells from cord blood	blood
8	chr15:42674000-42694400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:42674600-42682600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr15:42674600-42684400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:42675200-42683600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr15:42675200-42684800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr15:42675200-42702800	Weak transcription	Colon Smooth Muscle	Colon
14	chr15:42675600-42691600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:42676200-42682400	Strong transcription	Liver	Liver
16	chr15:42676400-42679600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr15:42676400-42680600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:42676600-42679800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr15:42676600-42680000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:42676600-42680200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:42676800-42679600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr15:42676800-42680200	Genic enhancers	Fetal Muscle Leg	muscle
23	chr15:42676800-42680400	Strong transcription	Primary B cells from cord blood	blood
24	chr15:42676800-42693200	Weak transcription	Fetal Stomach	stomach
25	chr15:42677000-42693400	Weak transcription	GM12878-XiMat	blood
26	chr15:42677200-42684000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr15:42677400-42680000	Genic enhancers	Adipose Nuclei	Adipose
28	chr15:42677400-42687800	Weak transcription	Brain Substantia Nigra	brain
29	chr15:42677600-42679600	Enhancers	Fetal Muscle Trunk	muscle
30	chr15:42677600-42689000	Weak transcription	Right Ventricle	heart
31	chr15:42677800-42679400	Enhancers	Fetal Thymus	thymus
32	chr15:42677800-42679600	Enhancers	K562	blood
33	chr15:42677800-42680200	Enhancers	HSMMtube	muscle
34	chr15:42677800-42682600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr15:42678000-42679400	Enhancers	Primary hematopoietic stem cells	blood
36	chr15:42678000-42680000	Enhancers	HSMM	muscle
37	chr15:42678200-42680000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr15:42678200-42680200	Strong transcription	Aorta	Aorta
39	chr15:42678200-42680200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr15:42678200-42688000	Weak transcription	Brain Hippocampus Middle	brain
41	chr15:42678400-42680200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr15:42678400-42681600	Weak transcription	HepG2	liver
43	chr15:42678400-42682200	Weak transcription	Fetal Intestine Large	intestine
44	chr15:42678400-42687400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr15:42678600-42679800	Weak transcription	Left Ventricle	heart
46	chr15:42678600-42691200	Weak transcription	Gastric	stomach
47	chr15:42678600-42706800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr15:42678800-42679800	Enhancers	Brain Angular Gyrus	brain
49	chr15:42678800-42680000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:42678800-42684600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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