Variant report

Variant	rs2074505
Chromosome Location	chr6:30521137-30521138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30519572-30521917	K562	blood:	n/a	n/a
2	POLR2A	chr6:30519999-30521316	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30520810..30527475-chr6:30577152..30588201,32	MCF-7	breast:
2	chr6:30517868..30527565-chr6:30576812..30587078,24	MCF-7	breast:
3	chr6:30450929..30459545-chr6:30516289..30528141,20	K562	blood:

Variant related genes	Relation type
PRR3	TF binding region
GNL1	TF binding region
ENSG00000236603	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000204569	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1058318	0.91[EUR][1000 genomes]
rs1264432	0.83[EUR][1000 genomes]
rs1264437	0.85[EUR][1000 genomes]
rs1264438	0.86[EUR][1000 genomes]
rs1264439	0.85[EUR][1000 genomes]
rs1264440	0.88[EUR][1000 genomes]
rs1264448	0.84[EUR][1000 genomes]
rs1264456	0.81[EUR][1000 genomes]
rs1362119	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1468079	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2023608	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2023609	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2074503	0.90[EUR][1000 genomes]
rs2074504	0.87[EUR][1000 genomes]
rs2109477	0.82[AMR][1000 genomes]
rs2252745	0.81[EUR][1000 genomes]
rs2269709	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2269710	0.87[EUR][1000 genomes]
rs2429655	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2429656	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2508021	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2508022	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2508023	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2508024	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2516639	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516641	0.90[EUR][1000 genomes]
rs2516642	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2516643	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516644	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2516646	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516647	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2516648	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2516649	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516653	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2516655	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2516656	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2516662	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2516665	0.82[ASN][1000 genomes]
rs2524221	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2524223	0.89[EUR][1000 genomes]
rs2524224	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2524225	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2524226	0.89[EUR][1000 genomes]
rs2534802	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2534803	0.83[EUR][1000 genomes]
rs2534804	0.83[EUR][1000 genomes]
rs2534805	0.81[EUR][1000 genomes]
rs2534806	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2534807	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2534808	0.86[EUR][1000 genomes]
rs2534809	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2534810	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2534811	0.83[AMR][1000 genomes]
rs2534812	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2534813	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2534814	0.86[EUR][1000 genomes]
rs2534815	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2534817	0.83[EUR][1000 genomes]
rs2534820	0.81[EUR][1000 genomes]
rs2534821	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2534823	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2534824	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2534825	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2844713	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2844714	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2844715	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2844716	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2844717	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2844718	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2844720	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2844721	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2844722	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2844723	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2844724	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2844725	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3094718	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3095280	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3130039	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3130041	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3130043	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3130045	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3130240	0.93[EUR][1000 genomes]
rs3130242	0.89[EUR][1000 genomes]
rs3130243	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3130244	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3132609	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3132612	0.86[EUR][1000 genomes]
rs3132613	0.89[EUR][1000 genomes]
rs3132614	0.91[EUR][1000 genomes]
rs9262070	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9262082	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9262118	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs975195	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs996588	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs996589	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30509800-30523000	Weak transcription	A549	lung
2	chr6:30510000-30521200	Weak transcription	Hela-S3	cervix
3	chr6:30510000-30522400	Weak transcription	Fetal Heart	heart
4	chr6:30510000-30523000	Weak transcription	Right Atrium	heart
5	chr6:30511600-30522600	Strong transcription	Fetal Muscle Trunk	muscle
6	chr6:30511800-30522600	Strong transcription	Placenta	Placenta
7	chr6:30512400-30522000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:30512400-30522200	Strong transcription	Fetal Stomach	stomach
9	chr6:30512600-30522400	Strong transcription	Fetal Thymus	thymus
10	chr6:30512800-30522000	Strong transcription	Fetal Intestine Small	intestine
11	chr6:30512800-30522000	Strong transcription	Lung	lung
12	chr6:30512800-30522000	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr6:30512800-30522200	Strong transcription	HepG2	liver
14	chr6:30512800-30522400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:30512800-30522400	Strong transcription	Primary B cells from cord blood	blood
16	chr6:30512800-30522400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:30513000-30522000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr6:30513000-30522000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:30513000-30522200	Strong transcription	Fetal Intestine Large	intestine
20	chr6:30513200-30522000	Strong transcription	Liver	Liver
21	chr6:30513200-30522000	Strong transcription	Brain Hippocampus Middle	brain
22	chr6:30513200-30522200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr6:30513200-30522200	Strong transcription	Brain Anterior Caudate	brain
24	chr6:30513200-30522200	Strong transcription	Fetal Muscle Leg	muscle
25	chr6:30513200-30522400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:30513200-30522400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr6:30513200-30522400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:30513200-30522400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:30513200-30522400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:30513200-30522400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr6:30513200-30522600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr6:30513200-30522600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:30513200-30522600	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr6:30513200-30522600	Strong transcription	Dnd41	blood
35	chr6:30513200-30523000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:30513400-30521800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:30513400-30522000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:30513400-30522000	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr6:30513400-30522000	Strong transcription	Fetal Brain Female	brain
40	chr6:30513400-30522000	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:30513400-30522200	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:30513400-30522200	Strong transcription	Brain Germinal Matrix	brain
43	chr6:30513400-30522200	Strong transcription	Ovary	ovary
44	chr6:30513400-30522400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:30513400-30522400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr6:30513400-30522400	Strong transcription	Brain Angular Gyrus	brain
47	chr6:30513400-30522400	Strong transcription	Thymus	Thymus
48	chr6:30513400-30522400	Strong transcription	Spleen	Spleen
49	chr6:30513400-30522600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:30513400-30522600	Strong transcription	Primary T cells from cord blood	blood

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