Variant report

Variant	rs2074503
Chromosome Location	chr6:30530496-30530497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30529541..30531687-chr6:30583397..30586994,3	MCF-7	breast:
2	chr6:30530377..30532484-chr6:30682846..30685653,2	K562	blood:
3	chr6:30461955..30465538-chr6:30528030..30531365,3	K562	blood:

Variant related genes	Relation type
ENSG00000204569	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000137337	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1058318	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1264432	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1264437	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1264438	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1264439	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1264440	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1264448	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1264456	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1362119	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1468079	0.88[EUR][1000 genomes]
rs2023608	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2023609	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2074504	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074505	0.90[EUR][1000 genomes]
rs2252745	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2269709	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2269710	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2429655	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2429656	0.81[EUR][1000 genomes]
rs2516639	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2516641	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2516642	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2516643	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2516644	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2516646	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2516648	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2516649	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2516653	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2516656	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2516662	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2524221	0.88[EUR][1000 genomes]
rs2524223	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2524224	0.87[EUR][1000 genomes]
rs2524225	0.83[EUR][1000 genomes]
rs2524226	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2534802	0.86[EUR][1000 genomes]
rs2534803	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2534804	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2534805	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2534806	0.80[EUR][1000 genomes]
rs2534807	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2534808	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2534809	0.83[EUR][1000 genomes]
rs2534810	0.86[EUR][1000 genomes]
rs2534812	0.80[EUR][1000 genomes]
rs2534813	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2534814	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2534815	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2534817	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2534820	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2534821	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2534823	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2534824	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2534825	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2844713	0.88[EUR][1000 genomes]
rs2844714	0.88[EUR][1000 genomes]
rs2844715	0.88[EUR][1000 genomes]
rs2844716	0.81[EUR][1000 genomes]
rs2844717	0.87[EUR][1000 genomes]
rs2844718	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2844720	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2844723	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2844724	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2844725	0.82[EUR][1000 genomes]
rs3094718	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3130039	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3130041	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3130043	0.85[EUR][1000 genomes]
rs3130045	0.82[EUR][1000 genomes]
rs3130240	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3130242	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3130243	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3130244	0.85[EUR][1000 genomes]
rs3132609	0.86[EUR][1000 genomes]
rs3132612	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3132613	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3132614	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9262082	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9262118	0.85[EUR][1000 genomes]
rs975195	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs996588	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs996589	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv884091	chr6:30526026-30590646	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	776 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30526000-30530800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:30526000-30537800	Weak transcription	Small Intestine	intestine
3	chr6:30526000-30538400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:30526000-30538600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:30526200-30530600	Weak transcription	Fetal Kidney	kidney
6	chr6:30526200-30538200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr6:30526400-30531600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:30526400-30532200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:30526400-30538000	Weak transcription	HUVEC	blood vessel
10	chr6:30526400-30538000	Weak transcription	NHDF-Ad	bronchial
11	chr6:30526600-30536000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr6:30526600-30537800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:30526800-30537600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr6:30526800-30538200	Weak transcription	Fetal Brain Male	brain
15	chr6:30526800-30538200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr6:30527600-30532200	Strong transcription	Fetal Muscle Leg	muscle
17	chr6:30527600-30532400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:30527600-30538000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:30528200-30532200	Strong transcription	Brain Germinal Matrix	brain
20	chr6:30528600-30531000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:30528600-30531400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:30528600-30531400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr6:30528600-30531400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:30528600-30531400	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr6:30528600-30531400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:30528600-30531600	Strong transcription	HSMM	muscle
27	chr6:30528600-30532000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:30528600-30532200	Strong transcription	Fetal Thymus	thymus
29	chr6:30528600-30532200	Strong transcription	Dnd41	blood
30	chr6:30528800-30531400	Strong transcription	Placenta	Placenta
31	chr6:30528800-30531800	Strong transcription	Fetal Brain Female	brain
32	chr6:30528800-30532000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:30528800-30532000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr6:30528800-30532200	Strong transcription	Primary T cells from cord blood	blood
35	chr6:30528800-30532400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:30529000-30531000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:30529000-30531000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr6:30529000-30531200	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr6:30529000-30531200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr6:30529000-30531200	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr6:30529000-30531200	Strong transcription	NHLF	lung
42	chr6:30529000-30531400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:30529000-30531400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:30529000-30531400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:30529000-30531400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:30529000-30531400	Strong transcription	Brain Anterior Caudate	brain
47	chr6:30529000-30531400	Strong transcription	Fetal Lung	lung
48	chr6:30529000-30531400	Strong transcription	Left Ventricle	heart
49	chr6:30529000-30531400	Strong transcription	A549	lung
50	chr6:30529000-30531600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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