Variant report

Variant	rs3130243
Chromosome Location	chr6:30537853-30537854
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:30537774-30537938	K562	blood:	n/a	n/a
2	CUX1	chr6:30537671-30537874	K562	blood:	n/a	n/a
3	MXI1	chr6:30537849-30540484	SK-N-SH	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30537301..30541414-chr6:30578056..30586798,20	MCF-7	breast:
2	chr6:30537121..30539529-chr6:30708411..30710426,2	MCF-7	breast:
3	chr6:30482719..30486624-chr6:30535507..30541696,8	K562	blood:
4	chr6:30537817..30539494-chr6:30709502..30712304,2	K562	blood:
5	chr6:30455992..30459496-chr6:30536691..30539449,3	K562	blood:
6	chr6:30293693..30295260-chr6:30537467..30539192,2	K562	blood:
7	chr6:30293760..30295440-chr6:30537692..30539464,2	K562	blood:

No data

Variant related genes	Relation type
ABCF1	TF binding region
ENSG00000231074	Chromatin interaction
ENSG00000204599	Chromatin interaction
ENSG00000235781	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000270604	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000137312	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1058318	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1264432	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1264437	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1264438	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1264439	0.85[EUR][1000 genomes]
rs1264440	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1264448	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1264456	0.81[EUR][1000 genomes]
rs1362119	0.90[EUR][1000 genomes]
rs1468079	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2023608	0.87[EUR][1000 genomes]
rs2023609	0.87[EUR][1000 genomes]
rs2074503	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2074504	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2074505	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2252745	0.81[EUR][1000 genomes]
rs2269709	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2269710	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2429655	0.87[EUR][1000 genomes]
rs2429656	0.80[EUR][1000 genomes]
rs2508021	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2508024	0.82[EUR][1000 genomes]
rs2516639	0.91[EUR][1000 genomes]
rs2516641	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2516642	0.90[EUR][1000 genomes]
rs2516643	0.90[EUR][1000 genomes]
rs2516644	0.90[EUR][1000 genomes]
rs2516646	0.89[EUR][1000 genomes]
rs2516647	0.86[EUR][1000 genomes]
rs2516648	0.87[EUR][1000 genomes]
rs2516649	0.89[EUR][1000 genomes]
rs2516653	0.81[EUR][1000 genomes]
rs2516655	0.80[EUR][1000 genomes]
rs2516656	0.87[EUR][1000 genomes]
rs2516662	0.87[EUR][1000 genomes]
rs2524221	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2524223	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2524224	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2524225	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2524226	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2534802	0.86[EUR][1000 genomes]
rs2534803	0.82[EUR][1000 genomes]
rs2534804	0.82[EUR][1000 genomes]
rs2534805	0.84[EUR][1000 genomes]
rs2534807	0.87[EUR][1000 genomes]
rs2534808	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2534809	0.82[EUR][1000 genomes]
rs2534810	0.86[EUR][1000 genomes]
rs2534812	0.86[EUR][1000 genomes]
rs2534813	0.87[EUR][1000 genomes]
rs2534814	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2534815	0.90[EUR][1000 genomes]
rs2534817	0.82[EUR][1000 genomes]
rs2534820	0.81[EUR][1000 genomes]
rs2534821	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2534823	0.88[EUR][1000 genomes]
rs2534824	0.88[EUR][1000 genomes]
rs2534825	0.86[EUR][1000 genomes]
rs2844713	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2844714	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2844715	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2844716	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2844717	0.86[EUR][1000 genomes]
rs2844718	0.86[EUR][1000 genomes]
rs2844720	0.87[EUR][1000 genomes]
rs2844723	0.88[EUR][1000 genomes]
rs2844724	0.87[EUR][1000 genomes]
rs2844725	0.81[EUR][1000 genomes]
rs3094718	0.90[EUR][1000 genomes]
rs3130039	0.89[EUR][1000 genomes]
rs3130041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3130043	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3130045	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3130240	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3130242	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3130244	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3132609	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3132612	0.87[EUR][1000 genomes]
rs3132613	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3132614	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9262070	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9262082	0.87[EUR][1000 genomes]
rs9262118	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs975195	0.87[EUR][1000 genomes]
rs996588	0.86[EUR][1000 genomes]
rs996589	0.85[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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30526000-30538400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:30526000-30538600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:30526200-30538200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr6:30526400-30538000	Weak transcription	HUVEC	blood vessel
5	chr6:30526400-30538000	Weak transcription	NHDF-Ad	bronchial
6	chr6:30526800-30538200	Weak transcription	Fetal Brain Male	brain
7	chr6:30526800-30538200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:30527600-30538000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:30530600-30538200	Weak transcription	Esophagus	oesophagus
10	chr6:30530800-30538000	Weak transcription	Right Ventricle	heart
11	chr6:30531000-30538000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr6:30531000-30538000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:30531000-30538000	Weak transcription	Aorta	Aorta
14	chr6:30531000-30538000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr6:30531000-30538000	Weak transcription	HSMMtube	muscle
16	chr6:30531000-30538000	Weak transcription	NHEK	skin
17	chr6:30531000-30538200	Weak transcription	Colonic Mucosa	Colon
18	chr6:30531000-30538200	Weak transcription	Gastric	stomach
19	chr6:30531000-30538400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:30531000-30538400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr6:30531000-30538600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:30531200-30538000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:30531200-30538000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr6:30531200-30538000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr6:30531200-30538000	Weak transcription	Fetal Intestine Small	intestine
26	chr6:30531200-30538200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr6:30531200-30538200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr6:30531200-30538200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr6:30531200-30538200	Weak transcription	HMEC	breast
30	chr6:30531200-30538200	Weak transcription	NH-A	brain
31	chr6:30531200-30538200	Weak transcription	NHLF	lung
32	chr6:30531200-30538400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr6:30531400-30538000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:30531400-30538000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr6:30531400-30538000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:30531400-30538000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:30531400-30538000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:30531400-30538000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr6:30531400-30538000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:30531400-30538000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:30531400-30538000	Weak transcription	Fetal Kidney	kidney
42	chr6:30531400-30538000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr6:30531400-30538000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr6:30531400-30538000	Weak transcription	Thymus	Thymus
45	chr6:30531400-30538000	Weak transcription	Spleen	Spleen
46	chr6:30531400-30538200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:30531400-30538200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:30531400-30538200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:30531400-30538200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:30531400-30538200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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