Variant report

Variant	rs6713219
Chromosome Location	chr2:153079708-153079709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153077207..153079757-chr2:153087992..153090946,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10182220	0.95[CEU][hapmap]
rs10497098	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10931006	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11685937	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11883562	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898205	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12474885	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12479199	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12623266	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12693288	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693289	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693290	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12994907	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823676	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16830726	0.91[CEU][hapmap];0.89[TSI][hapmap]
rs1806557	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1986711	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2345899	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2881244	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4560063	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4581846	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4664088	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4664090	0.85[GIH][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap]
rs4664541	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4664558	0.85[GIH][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap]
rs6433939	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6706684	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6710166	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756620	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7355335	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579212	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1004308	chr2:152980087-153154534	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv535985	chr2:152980087-153154534	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv3693434	chr2:152998467-153208713	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153077800-153080000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:153077800-153081800	Enhancers	Fetal Stomach	stomach
3	chr2:153078000-153080800	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr2:153078000-153081000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:153078000-153081000	Enhancers	Brain Substantia Nigra	brain
6	chr2:153078000-153081200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:153078000-153081200	Enhancers	Brain Hippocampus Middle	brain
8	chr2:153078000-153081400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:153078000-153081400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:153078200-153081000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:153078400-153079800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:153078400-153080000	Enhancers	Fetal Intestine Small	intestine
13	chr2:153078400-153081000	Enhancers	Fetal Muscle Leg	muscle
14	chr2:153078400-153081200	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:153078400-153081200	Enhancers	Fetal Brain Female	brain
16	chr2:153078400-153081200	Enhancers	Fetal Kidney	kidney
17	chr2:153078600-153079800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:153078600-153081000	Enhancers	Colon Smooth Muscle	Colon
19	chr2:153078600-153081000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:153078800-153079800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:153078800-153079800	Weak transcription	Fetal Brain Male	brain
22	chr2:153078800-153079800	Weak transcription	Ovary	ovary
23	chr2:153078800-153079800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:153078800-153079800	Weak transcription	Right Atrium	heart
25	chr2:153079000-153080000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:153079200-153080200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:153079200-153080600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:153079200-153080800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:153079200-153080800	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr2:153079200-153080800	Enhancers	Small Intestine	intestine
31	chr2:153079200-153081000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:153079400-153079800	Enhancers	Brain Anterior Caudate	brain
33	chr2:153079400-153080000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:153079400-153080800	Enhancers	Adipose Nuclei	Adipose
35	chr2:153079400-153080800	Enhancers	Duodenum Mucosa	Duodenum
36	chr2:153079400-153081200	Enhancers	Brain Germinal Matrix	brain
37	chr2:153079400-153081200	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr2:153079400-153081200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr2:153079600-153080000	Flanking Active TSS	Fetal Lung	lung
40	chr2:153079600-153080000	Flanking Active TSS	NH-A	brain
41	chr2:153079600-153080200	Enhancers	HSMM	muscle
42	chr2:153079600-153080400	Enhancers	Fetal Heart	heart
43	chr2:153079600-153080400	Enhancers	HepG2	liver
44	chr2:153079600-153080600	Enhancers	Liver	Liver
45	chr2:153079600-153080600	Enhancers	NHLF	lung
46	chr2:153079600-153080600	Enhancers	Osteobl	bone
47	chr2:153079600-153080800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:153079600-153080800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr2:153079600-153080800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:153079600-153080800	Enhancers	HMEC	breast

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