Variant report

Variant	rs6714546
Chromosome Location	chr2:33361425-33361426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:33360698..33363585-chr2:33365349..33368333,2	K562	blood:
2	chr2:33360506..33363015-chr2:33369952..33372450,2	K562	blood:
3	chr2:33355814..33359074-chr2:33359730..33364790,5	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1000951	1.00[CHB][hapmap]
rs1028598	1.00[CHB][hapmap]
rs10490450	1.00[CHB][hapmap]
rs11124308	1.00[CHB][hapmap]
rs11685178	1.00[CHB][hapmap]
rs13417287	1.00[CHB][hapmap]
rs1545552	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1563183	1.00[JPT][hapmap]
rs17396766	1.00[CHB][hapmap]
rs17396814	1.00[CHB][hapmap]
rs17397149	1.00[CHB][hapmap]
rs17397310	1.00[CHB][hapmap]
rs17397603	1.00[CHB][hapmap]
rs2123917	1.00[CHB][hapmap]
rs218211	1.00[CHB][hapmap]
rs218213	1.00[CHB][hapmap]
rs218214	1.00[CHB][hapmap]
rs218215	1.00[CHB][hapmap]
rs218225	1.00[CHB][hapmap]
rs219082	1.00[CHB][hapmap]
rs219208	1.00[CHB][hapmap]
rs4670893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714901	1.00[CHB][hapmap]
rs6723744	1.00[CHB][hapmap]
rs6751782	1.00[CHB][hapmap]
rs6758871	1.00[CHB][hapmap]
rs7594155	1.00[CHB][hapmap]
rs897090	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9678317	1.00[CHB][hapmap]
rs9678351	1.00[CHB][hapmap]

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	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1012946	chr2:33294522-33370391	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv535626	chr2:33294522-33370391	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv873789	chr2:33297967-33390188	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Height	20881960	GWAS catalog

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33358600-33362000	Active TSS	Brain Angular Gyrus	brain
2	chr2:33358600-33362600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:33358800-33362000	Active TSS	Ovary	ovary
4	chr2:33358800-33363200	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr2:33358800-33371600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:33359000-33362000	Active TSS	Psoas Muscle	Psoas
7	chr2:33359000-33362000	Active TSS	Right Atrium	heart
8	chr2:33359000-33362800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:33359000-33362800	Active TSS	Aorta	Aorta
10	chr2:33359000-33363000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:33359000-33363000	Active TSS	Stomach Smooth Muscle	stomach
12	chr2:33359200-33361600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:33359200-33362000	Active TSS	Right Ventricle	heart
14	chr2:33359200-33362600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:33359200-33362800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:33359200-33362800	Active TSS	NHDF-Ad	bronchial
17	chr2:33359200-33362800	Active TSS	NHLF	lung
18	chr2:33359400-33361600	Active TSS	Muscle Satellite Cultured Cells	--
19	chr2:33359600-33361600	Active TSS	Osteobl	bone
20	chr2:33360000-33361800	Enhancers	Adipose Nuclei	Adipose
21	chr2:33360000-33362000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:33360000-33363000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:33360000-33363200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr2:33360000-33367400	Weak transcription	Lung	lung
25	chr2:33360000-33373000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:33360000-33378400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:33360200-33361800	Active TSS	Fetal Brain Male	brain
28	chr2:33360200-33361800	Active TSS	Fetal Muscle Trunk	muscle
29	chr2:33360200-33362000	Active TSS	Fetal Muscle Leg	muscle
30	chr2:33360200-33362000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr2:33360200-33362800	Enhancers	Fetal Heart	heart
32	chr2:33360200-33362800	Active TSS	NH-A	brain
33	chr2:33360200-33372600	Weak transcription	Liver	Liver
34	chr2:33360200-33385800	Weak transcription	Placenta	Placenta
35	chr2:33360600-33361600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:33360600-33362000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr2:33360600-33362000	Flanking Active TSS	Fetal Lung	lung
38	chr2:33360600-33366600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:33360800-33362000	Flanking Active TSS	HUVEC	blood vessel
40	chr2:33360800-33362000	Enhancers	NHEK	skin
41	chr2:33361000-33362000	Active TSS	Brain Hippocampus Middle	brain
42	chr2:33361000-33366000	Weak transcription	K562	blood
43	chr2:33361200-33361600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:33361200-33361800	Flanking Active TSS	Fetal Stomach	stomach
45	chr2:33361200-33362000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:33361200-33362000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:33361200-33362600	Enhancers	HMEC	breast
48	chr2:33361200-33363600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:33361200-33367400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr2:33361400-33361600	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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