Variant report

Variant	rs6729037
Chromosome Location	chr2:112656777-112656778
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112640266..112649080-chr2:112649576..112660203,14	MCF-7	breast:
2	chr2:112654702..112658000-chr2:112810291..112813027,3	K562	blood:
3	chr2:112652127..112657107-chr2:112810449..112814378,4	K562	blood:
4	chr2:112653818..112657765-chr2:112811676..112815783,10	MCF-7	breast:
5	chr2:112639319..112643119-chr2:112654632..112657707,5	K562	blood:
6	chr2:112641269..112644137-chr2:112654774..112658202,3	MCF-7	breast:
7	chr2:112639278..112642827-chr2:112654632..112657057,4	K562	blood:

Variant related genes	Relation type
ENSG00000236307	Chromatin interaction
ENSG00000153107	Chromatin interaction
ENSG00000153214	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1113419	0.89[EUR][1000 genomes]
rs11884641	0.83[EUR][1000 genomes]
rs11884693	0.83[EUR][1000 genomes]
rs11887652	0.83[EUR][1000 genomes]
rs11893308	0.81[EUR][1000 genomes]
rs11902247	0.89[EUR][1000 genomes]
rs12466812	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12469210	0.83[EUR][1000 genomes]
rs12470338	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12477716	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1400321	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1400324	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1400325	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1516629	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17174870	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17175275	0.89[EUR][1000 genomes]
rs17175331	0.89[EUR][1000 genomes]
rs17835605	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2001201	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2001444	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4278932	0.83[EUR][1000 genomes]
rs4349353	0.83[EUR][1000 genomes]
rs4434006	0.88[EUR][1000 genomes]
rs4521048	0.82[EUR][1000 genomes]
rs4528767	0.82[EUR][1000 genomes]
rs55708724	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55728465	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55766181	0.83[EUR][1000 genomes]
rs55785997	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55792453	0.81[EUR][1000 genomes]
rs55799805	0.83[EUR][1000 genomes]
rs55972521	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56272510	0.89[EUR][1000 genomes]
rs57640566	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57732600	0.82[EUR][1000 genomes]
rs58065683	0.83[EUR][1000 genomes]
rs58641606	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59650987	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61583444	0.82[EUR][1000 genomes]
rs6710733	0.82[EUR][1000 genomes]
rs6712080	0.81[EUR][1000 genomes]
rs6737989	0.81[EUR][1000 genomes]
rs7563113	0.83[EUR][1000 genomes]
rs7568632	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7575552	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7578057	0.89[EUR][1000 genomes]
rs867311	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803356	chr2:111899783-112662597	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv428402	chr2:111899783-112662597	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1801950	chr2:111899783-112746937	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv2757825	chr2:111899783-112746937	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	esv2759083	chr2:111899783-112746937	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv834333	chr2:112490211-112658347	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
9	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
10	nsv961869	chr2:112645626-112660962	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv998028	chr2:112649472-112734015	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv582701	chr2:112649472-112740597	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv526647	chr2:112651316-112738562	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv582702	chr2:112651316-112738562	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	esv3437465	chr2:112654906-112657454	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112655000-112657000	Active TSS	Primary T killer memory cells from peripheral blood	blood
2	chr2:112655000-112657400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr2:112655000-112657400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:112655000-112657600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:112655000-112658200	Active TSS	Brain Hippocampus Middle	brain
6	chr2:112655200-112657200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:112655200-112657200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr2:112655200-112657200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr2:112655200-112657400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr2:112655200-112657400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr2:112655200-112657600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:112655200-112657600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:112655200-112657600	Active TSS	Left Ventricle	heart
14	chr2:112655200-112658000	Active TSS	Fetal Intestine Large	intestine
15	chr2:112655200-112658200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:112655200-112659400	Active TSS	Right Atrium	heart
17	chr2:112655400-112656800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:112655400-112656800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:112655400-112656800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:112655400-112656800	Flanking Bivalent TSS/Enh	Thymus	Thymus
21	chr2:112655400-112656800	Bivalent/Poised TSS	HepG2	liver
22	chr2:112655400-112657200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:112655400-112657200	Active TSS	A549	lung
24	chr2:112655400-112657400	Active TSS	Fetal Kidney	kidney
25	chr2:112655400-112657600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:112655400-112657600	Active TSS	Ovary	ovary
27	chr2:112655400-112657800	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr2:112655400-112657800	Active TSS	Brain Angular Gyrus	brain
29	chr2:112655400-112657800	Active TSS	Colon Smooth Muscle	Colon
30	chr2:112655400-112658200	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr2:112655400-112658800	Active TSS	Aorta	Aorta
32	chr2:112655600-112656800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:112655600-112656800	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr2:112655600-112657000	Active TSS	Small Intestine	intestine
35	chr2:112655600-112657000	Active TSS	Spleen	Spleen
36	chr2:112655600-112657000	Bivalent/Poised TSS	NHDF-Ad	bronchial
37	chr2:112655600-112657200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:112655600-112657200	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr2:112655600-112657200	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr2:112655600-112657200	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr2:112655600-112657200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:112655600-112657200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr2:112655600-112657200	Active TSS	Fetal Lung	lung
44	chr2:112655600-112657200	Active TSS	K562	blood
45	chr2:112655600-112657400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr2:112655600-112657400	Active TSS	Liver	Liver
47	chr2:112655600-112657400	Active TSS	Duodenum Mucosa	Duodenum
48	chr2:112655600-112657400	Active TSS	Gastric	stomach
49	chr2:112655600-112657400	Active TSS	Lung	lung
50	chr2:112655600-112657400	Active TSS	Pancreas	Pancrea

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