Variant report

Variant	rs6723440
Chromosome Location	chr2:188391448-188391449
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:188389696..188391580-chr2:188402374..188405162,2	K562	blood:
2	chr2:188390916..188392593-chr2:188395484..188396999,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10168929	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10183377	1.00[AMR][1000 genomes]
rs10208660	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10221647	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10439309	1.00[AMR][1000 genomes]
rs13389476	1.00[AMR][1000 genomes]
rs13396262	0.89[AFR][1000 genomes]
rs13396869	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13403335	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13405040	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs13412597	1.00[AMR][1000 genomes]
rs13419272	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs13422718	1.00[AMR][1000 genomes]
rs28475020	1.00[AMR][1000 genomes]
rs6723480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176438	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176451	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176458	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176465	1.00[AMR][1000 genomes]
rs8176483	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176486	0.92[AFR][1000 genomes]
rs8176515	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs9808448	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv875564	chr2:188258904-188414161	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv875565	chr2:188258904-188440752	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv834488	chr2:188268434-188415496	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv875568	chr2:188291105-188653806	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv875576	chr2:188343497-188482933	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv875577	chr2:188343497-188500930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv875578	chr2:188343497-188690187	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv997899	chr2:188356689-188531831	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1014298	chr2:188359747-188531831	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1013166	chr2:188359747-188544803	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1014942	chr2:188360116-188480738	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv584038	chr2:188370232-188450136	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv875580	chr2:188370232-188521234	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	esv2757845	chr2:188380042-188503185	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	esv2759108	chr2:188380042-188503185	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv875581	chr2:188390819-188521234	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188360600-188391600	Weak transcription	Psoas Muscle	Psoas
2	chr2:188375200-188400000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:188381800-188406000	Weak transcription	Small Intestine	intestine
4	chr2:188381800-188406600	Weak transcription	Aorta	Aorta
5	chr2:188382600-188391600	Weak transcription	Ovary	ovary
6	chr2:188383000-188392000	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:188384600-188391600	Weak transcription	Adipose Nuclei	Adipose
8	chr2:188384800-188391600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:188385200-188397000	Weak transcription	Pancreas	Pancrea
10	chr2:188385200-188397200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:188385200-188397200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:188385200-188406000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:188385400-188391600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:188385400-188394000	Weak transcription	Placenta	Placenta
15	chr2:188385400-188396400	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:188385400-188397000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:188385400-188397000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:188385400-188397000	Weak transcription	Fetal Stomach	stomach
19	chr2:188385400-188397200	Weak transcription	Fetal Intestine Small	intestine
20	chr2:188385400-188397600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:188385800-188395200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:188385800-188397000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:188386000-188394200	Weak transcription	K562	blood
24	chr2:188386200-188391600	Weak transcription	Fetal Lung	lung
25	chr2:188387000-188397000	Weak transcription	Lung	lung
26	chr2:188387000-188406000	Weak transcription	Fetal Intestine Large	intestine
27	chr2:188387200-188397000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:188387200-188398600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:188387200-188406000	Weak transcription	HSMMtube	muscle
30	chr2:188387400-188391600	Weak transcription	NH-A	brain
31	chr2:188387600-188397000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:188389200-188391800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:188389400-188391600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:188389600-188392400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:188389800-188392400	Enhancers	Osteobl	bone
36	chr2:188389800-188392600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr2:188390000-188391600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:188390000-188391800	Genic enhancers	HUVEC	blood vessel
39	chr2:188390000-188393600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:188390000-188398400	Genic enhancers	HepG2	liver
41	chr2:188390200-188392400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:188390200-188392600	Enhancers	NHDF-Ad	bronchial
43	chr2:188390400-188392400	Enhancers	NHLF	lung
44	chr2:188390400-188392600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:188390600-188393800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:188390800-188392400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr2:188391000-188392600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:188391000-188398000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr2:188391200-188391600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:188391200-188393200	Enhancers	Liver	Liver

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