Variant report

Variant	rs61605502
Chromosome Location	chr6:26232979-26232980
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:26232959-26235359	SK-N-SH	brain:	n/a	n/a
2	SP4	chr6:26232935-26235412	H1-hESC	embryonic stem cell:	n/a	n/a
3	HEY1	chr6:26232360-26235431	K562	blood:	n/a	n/a
4	CHD2	chr6:26232930-26235320	K562	blood:	n/a	n/a
5	POLR2A	chr6:26232386-26235514	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:26232551-26233087	GM12891	blood:	n/a	n/a
7	CHD2	chr6:26232706-26235433	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr6:26230664-26235434	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr6:26232363-26235719	MCF-7	breast:	n/a	n/a
10	TAF7	chr6:26231102-26235460	H1-hESC	embryonic stem cell:	n/a	n/a
11	MXI1	chr6:26232890-26235546	IMR90	lung:	n/a	n/a
12	POLR2A	chr6:26232620-26235395	GM19099	blood:	n/a	n/a
13	POLR2A	chr6:26232125-26235418	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr6:26232811-26235382	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:26232665-26235322	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr6:26232957-26235746	K562	blood:	n/a	n/a
17	POU2F2	chr6:26232785-26235431	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:26230612-26235624	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr6:26232466-26235583	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:26230227-26235776	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr6:26232589-26234646	K562	blood:	n/a	n/a
22	POLR2A	chr6:26232809-26235426	GM12892	blood:	n/a	n/a
23	CEBPD	chr6:26232760-26235469	K562	blood:	n/a	n/a
24	GATA3	chr6:26232961-26233195	SH-SY5Y	brain:	n/a	n/a
25	BCL11A	chr6:26232816-26233328	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAFK	chr6:26232952-26233680	H1-hESC	embryonic stem cell:	n/a	n/a
27	TAL1	chr6:26232763-26235358	K562	blood:	n/a	n/a
28	RCOR1	chr6:26232896-26232979	K562	blood:	n/a	n/a
29	POLR2A	chr6:26231101-26235372	K562	blood:	n/a	n/a
30	BCLAF1	chr6:26232382-26235441	K562	blood:	n/a	chr6:26234372-26234385 chr6:26234308-26234316
31	ZBTB33	chr6:26232876-26235484	SK-N-SH	brain:	n/a	chr6:26235409-26235418
32	POLR2A	chr6:26232747-26235401	GM12892	blood:	n/a	n/a
33	POLR2A	chr6:26232825-26235456	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr6:26232442-26235354	K562	blood:	n/a	n/a
35	POLR2A	chr6:26230336-26235430	K562	blood:	n/a	n/a
36	SIN3AK20	chr6:26232716-26235654	MCF-7	breast:	n/a	n/a
37	ATF2	chr6:26231331-26235444	H1-hESC	embryonic stem cell:	n/a	n/a
38	TEAD4	chr6:26232645-26235457	K562	blood:	n/a	n/a
39	POLR2A	chr6:26232857-26235407	GM12891	blood:	n/a	n/a
40	SP1	chr6:26232939-26235506	H1-hESC	embryonic stem cell:	n/a	chr6:26233271-26233292 chr6:26234394-26234404
41	HEY1	chr6:26232120-26235443	K562	blood:	n/a	n/a
42	GTF2F1	chr6:26232503-26235420	H1-hESC	embryonic stem cell:	n/a	chr6:26232942-26232953
43	POLR2A	chr6:26232775-26235521	GM12892	blood:	n/a	n/a
44	CHD1	chr6:26232244-26235390	H1-hESC	embryonic stem cell:	n/a	n/a
45	BCLAF1	chr6:26232460-26235413	K562	blood:	n/a	chr6:26234372-26234385 chr6:26234308-26234316
46	POLR2A	chr6:26232490-26235574	GM12878	blood:	n/a	n/a
47	PML	chr6:26232834-26235456	K562	blood:	n/a	n/a
48	POLR2A	chr6:26232861-26235483	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26025967..26028344-chr6:26231112..26233437,2	MCF-7	breast:
2	chr21:44526126..44528705-chr6:26232568..26234835,2	MCF-7	breast:
3	chr6:26232392..26235722-chr6:27100798..27102386,3	K562	blood:
4	chr19:1650911..1652489-chr6:26231971..26233838,2	K562	blood:
5	chr6:26231234..26236589-chr6:27099738..27104932,8	K562	blood:
6	chr3:183966623..183968865-chr6:26231934..26234192,2	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H2APS3	TF binding region
ENSG00000160201	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000214160	Chromatin interaction
ENSG00000071564	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000145194	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11965752	1.00[AMR][1000 genomes]
rs56860308	1.00[AMR][1000 genomes]
rs59376350	1.00[AMR][1000 genomes]
rs59941327	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60123309	1.00[AMR][1000 genomes]
rs60479541	1.00[AMR][1000 genomes]
rs6901777	1.00[AMR][1000 genomes]
rs73383165	1.00[AMR][1000 genomes]
rs73389453	1.00[AMR][1000 genomes]
rs73393407	1.00[AMR][1000 genomes]
rs73393431	1.00[AMR][1000 genomes]
rs73393433	1.00[AMR][1000 genomes]
rs73393455	1.00[AMR][1000 genomes]
rs73393462	1.00[AMR][1000 genomes]
rs73395318	1.00[AMR][1000 genomes]
rs73395332	1.00[AMR][1000 genomes]
rs73399338	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399361	1.00[AMR][1000 genomes]
rs7741632	1.00[AMR][1000 genomes]
rs7748602	1.00[AFR][1000 genomes];1.00[AMR][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	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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv1021294	chr6:26190316-26246784	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	309 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26225600-26233400	Weak transcription	Colonic Mucosa	Colon
2	chr6:26225800-26233000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:26225800-26233000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:26225800-26233400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:26226000-26233000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:26226000-26233200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:26226400-26233000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:26226400-26233000	Weak transcription	Placenta	Placenta
9	chr6:26226400-26233000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:26226400-26233000	Weak transcription	HMEC	breast
11	chr6:26226400-26233200	Weak transcription	Liver	Liver
12	chr6:26226400-26233200	Weak transcription	HUVEC	blood vessel
13	chr6:26226400-26233800	Weak transcription	Gastric	stomach
14	chr6:26226400-26234000	Weak transcription	HSMMtube	muscle
15	chr6:26226600-26233200	Weak transcription	Esophagus	oesophagus
16	chr6:26226600-26233200	Weak transcription	NHLF	lung
17	chr6:26226600-26233600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:26226800-26233200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:26227400-26233200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:26227400-26233200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:26227600-26233000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:26227600-26233200	Weak transcription	NHEK	skin
23	chr6:26227600-26233400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:26228200-26233200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:26231200-26236000	Active TSS	Thymus	Thymus
26	chr6:26231400-26233000	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr6:26231600-26233200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:26232000-26233400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:26232400-26233000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr6:26232400-26233200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:26232400-26233200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr6:26232400-26236000	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr6:26232600-26233000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr6:26232600-26233000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr6:26232600-26233000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr6:26232600-26233000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr6:26232600-26233200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr6:26232600-26233200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr6:26232600-26233400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:26232600-26233400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr6:26232600-26233800	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr6:26232600-26234200	Flanking Active TSS	Fetal Thymus	thymus
43	chr6:26232600-26234800	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr6:26232600-26235800	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr6:26232800-26233000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr6:26232800-26233000	Active TSS	H9 Cell Line	embryonic stem cell
47	chr6:26232800-26233000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr6:26232800-26233000	Enhancers	Primary B cells from peripheral blood	blood
49	chr6:26232800-26233000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:26232800-26233000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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