Variant report

Variant	rs2282848
Chromosome Location	chr6:26127090-26127091
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	MXI1	chr6:26122292-26127660	SK-N-SH	brain:	n/a	n/a
2	CREB1	chr6:26125297-26127115	K562	blood:	n/a	n/a
3	CBX3	chr6:26125400-26127463	K562	blood:	n/a	n/a
4	POLR2A	chr6:26122490-26127190	SK-N-SH	brain:	n/a	n/a
5	MEF2A	chr6:26126035-26127668	K562	blood:	n/a	chr6:26126680-26126695 chr6:26126680-26126695
6	POLR2A	chr6:26122407-26127601	SK-N-MC	brain:	n/a	n/a
7	PML	chr6:26122206-26129108	K562	blood:	n/a	n/a
8	POLR2A	chr6:26112014-26135800	K562	blood:	n/a	n/a
9	POLR2A	chr6:26122660-26127109	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr6:26126980-26127177	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr6:26122626-26127189	Hela-S3	cervix:	n/a	n/a
12	ELK1	chr6:26126946-26127817	K562	blood:	n/a	n/a
13	TEAD4	chr6:26120905-26127941	K562	blood:	n/a	n/a
14	SIN3AK20	chr6:26122654-26127278	K562	blood:	n/a	n/a
15	POLR2A	chr6:26126868-26127481	SK-N-SH	brain:	n/a	n/a
16	BCLAF1	chr6:26122252-26127868	K562	blood:	n/a	chr6:26126779-26126788 chr6:26122722-26122731 chr6:26125896-26125905
17	POLR2A	chr6:26120221-26136970	K562	blood:	n/a	n/a
18	NR2F2	chr6:26125581-26127606	K562	blood:	n/a	n/a
19	POLR2A	chr6:26122230-26127184	MCF-7	breast:	n/a	n/a
20	POLR2A	chr6:26122549-26127097	H1-hESC	embryonic stem cell:	n/a	n/a
21	HEY1	chr6:26122605-26127126	K562	blood:	n/a	n/a
22	POLR2A	chr6:26125231-26127447	K562	blood:	n/a	n/a
23	POLR2A	chr6:26122536-26127139	GM12878	blood:	n/a	n/a
24	POLR2A	chr6:26122835-26127476	Hela-S3	cervix:	n/a	n/a
25	CCNT2	chr6:26126825-26127110	K562	blood:	n/a	n/a
26	TAF7	chr6:26122566-26127204	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr6:26122317-26127977	H1-hESC	embryonic stem cell:	n/a	n/a
28	TBL1XR1	chr6:26126250-26127360	K562	blood:	n/a	n/a
29	POLR2A	chr6:26122494-26127232	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr6:26122832-26127233	H1-neurons	neurons:	n/a	n/a
31	MXI1	chr6:26126312-26127850	K562	blood:	n/a	n/a
32	POLR2A	chr6:26121000-26129264	H1-hESC	embryonic stem cell:	n/a	n/a
33	SP1	chr6:26122572-26127189	HCT-116	colon:	n/a	chr6:26125867-26125877 chr6:26125867-26125877 chr6:26124289-26124310 chr6:26124328-26124349
34	POLR2A	chr6:26121435-26133623	K562	blood:	n/a	n/a
35	POLR2A	chr6:26122138-26127158	PANC-1	pancreas:	n/a	n/a
36	BCLAF1	chr6:26120463-26129092	K562	blood:	n/a	chr6:26126779-26126788 chr6:26122722-26122731 chr6:26125896-26125905
37	REST	chr6:26122788-26127457	H1-neurons	neurons:	n/a	chr6:26125896-26125905 chr6:26125037-26125044 chr6:26125890-26125910
38	HEY1	chr6:26121111-26129034	K562	blood:	n/a	n/a
39	CEBPD	chr6:26122182-26128031	K562	blood:	n/a	n/a
40	EGR1	chr6:26126196-26127110	K562	blood:	n/a	chr6:26126834-26126858 chr6:26126557-26126572
41	POLR2A	chr6:26122559-26128971	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAZ	chr6:26125817-26127122	IMR90	lung:	n/a	n/a
43	POLR2A	chr6:26122689-26127804	K562	blood:	n/a	n/a
44	GABPA	chr6:26126309-26127121	MCF-7	breast:	n/a	n/a
45	GATA2	chr6:26126210-26127295	K562	blood:	n/a	chr6:26126795-26126805 chr6:26127220-26127227
46	POLR2A	chr6:26121828-26127217	PANC-1	pancreas:	n/a	n/a
47	CHD2	chr6:26125982-26127193	K562	blood:	n/a	n/a
48	POLR2A	chr6:26122517-26127213	HCT-116	colon:	n/a	n/a
49	POLR2A	chr6:26122657-26127203	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr6:26122682-26127994	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:26043872..26047495-chr6:26122651..26127553,11	MCF-7	breast:
2	chr6:26125396..26127979-chr6:27804400..27807188,2	MCF-7	breast:
3	chr13:30875144..30876663-chr6:26125890..26127956,2	K562	blood:
4	chr6:26125962..26127284-chr6:26156876..26158448,4	HCT-116	colon:
5	chr6:26122455..26127911-chr6:27777953..27784057,9	MCF-7	breast:
6	chr6:25874208..25876723-chr6:26125728..26128434,2	K562	blood:
7	chr6:26119257..26128074-chr6:27097161..27104707,27	K562	blood:
8	chr20:35723766..35724285-chr6:26126658..26127416,2	HCT-116	colon:
9	chr6:26119863..26128842-chr6:27096583..27102911,26	K562	blood:
10	chr17:57915751..57917503-chr6:26125916..26127492,2	MCF-7	breast:
11	chr6:26017750..26036418-chr6:26116875..26130553,65	MCF-7	breast:
12	chr6:26124251..26127166-chr6:31695138..31698033,2	K562	blood:
13	chr6:26053512..26063692-chr6:26116837..26127451,29	MCF-7	breast:
14	chr6:26121790..26128581-chr6:27110404..27116881,10	MCF-7	breast:

Variant related genes	Relation type
HIST1H2BC	TF binding region
ENSG00000196176	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000196226	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000234816	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000269846	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000124564	Chromatin interaction
ENSG00000182611	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000196532	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000124610	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000196374	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000213722	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1800708	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2051542	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2051543	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58852718	0.81[ASN][1000 genomes]
rs6908263	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927689	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7743957	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7747040	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7760713	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7771690	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs933199	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9366638	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9379826	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9393685	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9461234	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461235	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467675	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467677	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
5	nsv1025237	chr6:25874326-26280867	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
6	nsv538163	chr6:25874326-26280867	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
7	nsv1028456	chr6:25984457-26174993	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	873 gene(s)	inside rSNPs	diseases
8	nsv538165	chr6:25984457-26174993	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	873 gene(s)	inside rSNPs	diseases
9	nsv428137	chr6:25987413-26351920	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1181 gene(s)	inside rSNPs	diseases
10	nsv916992	chr6:25991630-26280921	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1159 gene(s)	inside rSNPs	diseases
11	nsv1028232	chr6:26005449-26319756	Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1171 gene(s)	inside rSNPs	diseases
12	nsv870314	chr6:26008435-26280807	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1151 gene(s)	inside rSNPs	diseases
13	nsv1023457	chr6:26014014-26305407	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1170 gene(s)	inside rSNPs	diseases
14	nsv1025493	chr6:26026870-26223838	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1001 gene(s)	inside rSNPs	diseases
15	nsv1023979	chr6:26026870-26287399	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1113 gene(s)	inside rSNPs	diseases
16	nsv1015782	chr6:26026870-26323895	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1114 gene(s)	inside rSNPs	diseases
17	nsv1018665	chr6:26026870-26352046	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1116 gene(s)	inside rSNPs	diseases
18	nsv482348	chr6:26082709-26261136	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	799 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	chr6:26122400-26127800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:26122600-26127200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:26122600-26127200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:26122600-26127200	Active TSS	Fetal Kidney	kidney
5	chr6:26122600-26127400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:26122600-26127600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:26122600-26127600	Active TSS	Brain Substantia Nigra	brain
8	chr6:26122600-26127800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:26122600-26127800	Active TSS	Psoas Muscle	Psoas
10	chr6:26122600-26128400	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr6:26122800-26127200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:26122800-26127200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:26122800-26127200	Active TSS	Esophagus	oesophagus
14	chr6:26122800-26127200	Active TSS	Fetal Muscle Trunk	muscle
15	chr6:26122800-26127200	Active TSS	Left Ventricle	heart
16	chr6:26122800-26127200	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr6:26122800-26127200	Active TSS	Small Intestine	intestine
18	chr6:26122800-26127600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr6:26122800-26127600	Active TSS	Colonic Mucosa	Colon
20	chr6:26122800-26127600	Active TSS	Right Ventricle	heart
21	chr6:26122800-26128600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:26123000-26127200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:26123000-26127200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:26123000-26127200	Active TSS	Colon Smooth Muscle	Colon
25	chr6:26123000-26127200	Active TSS	GM12878-XiMat	blood
26	chr6:26123000-26127400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:26123000-26127400	Active TSS	Fetal Intestine Small	intestine
28	chr6:26123000-26127400	Active TSS	A549	lung
29	chr6:26123000-26127600	Active TSS	Fetal Brain Female	brain
30	chr6:26123000-26127600	Active TSS	HMEC	breast
31	chr6:26123000-26127800	Active TSS	H1 Cell Line	embryonic stem cell
32	chr6:26123000-26128000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:26123000-26128000	Active TSS	NHLF	lung
34	chr6:26123200-26127200	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr6:26123200-26127200	Active TSS	Brain Hippocampus Middle	brain
36	chr6:26123200-26127200	Active TSS	Placenta Amnion	Placenta Amnion
37	chr6:26123200-26127400	Active TSS	Fetal Intestine Large	intestine
38	chr6:26123200-26127600	Active TSS	Ovary	ovary
39	chr6:26123200-26127800	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr6:26123200-26127800	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr6:26123200-26127800	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr6:26123200-26128000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:26123200-26128200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:26123200-26128200	Active TSS	HSMMtube	muscle
45	chr6:26123400-26127200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:26124000-26128000	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr6:26124200-26127600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:26124400-26127600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:26124600-26134200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:26124800-26127600	Active TSS	Aorta	Aorta

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