Variant report

Variant	rs198814
Chromosome Location	chr6:26127759-26127760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr6:26127734-26129124	K562	blood:	n/a	n/a
2	POLR2A	chr6:26127652-26127842	H1-hESC	embryonic stem cell:	n/a	n/a
3	CCNT2	chr6:26127691-26127773	K562	blood:	n/a	n/a
4	PML	chr6:26122206-26129108	K562	blood:	n/a	n/a
5	POLR2A	chr6:26112014-26135800	K562	blood:	n/a	n/a
6	ELK1	chr6:26126946-26127817	K562	blood:	n/a	n/a
7	TEAD4	chr6:26120905-26127941	K562	blood:	n/a	n/a
8	BCLAF1	chr6:26122252-26127868	K562	blood:	n/a	chr6:26126779-26126788 chr6:26122722-26122731 chr6:26125896-26125905
9	POLR2A	chr6:26120221-26136970	K562	blood:	n/a	n/a
10	POLR2A	chr6:26122317-26127977	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr6:26127318-26127939	PANC-1	pancreas:	n/a	n/a
12	MXI1	chr6:26126312-26127850	K562	blood:	n/a	n/a
13	POLR2A	chr6:26121000-26129264	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr6:26121435-26133623	K562	blood:	n/a	n/a
15	POLR2A	chr6:26127668-26127863	MCF-7	breast:	n/a	n/a
16	BCLAF1	chr6:26120463-26129092	K562	blood:	n/a	chr6:26126779-26126788 chr6:26122722-26122731 chr6:26125896-26125905
17	HEY1	chr6:26121111-26129034	K562	blood:	n/a	n/a
18	CEBPD	chr6:26122182-26128031	K562	blood:	n/a	n/a
19	POLR2A	chr6:26122559-26128971	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr6:26122689-26127804	K562	blood:	n/a	n/a
21	POLR2A	chr6:26122682-26127994	HL-60	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26125396..26127979-chr6:27804400..27807188,2	MCF-7	breast:
2	chr13:30875144..30876663-chr6:26125890..26127956,2	K562	blood:
3	chr6:26122455..26127911-chr6:27777953..27784057,9	MCF-7	breast:
4	chr6:25874208..25876723-chr6:26125728..26128434,2	K562	blood:
5	chr6:26119257..26128074-chr6:27097161..27104707,27	K562	blood:
6	chr6:26119863..26128842-chr6:27096583..27102911,26	K562	blood:
7	chr6:26017750..26036418-chr6:26116875..26130553,65	MCF-7	breast:
8	chr1:11967127..11969699-chr6:26127396..26129327,2	K562	blood:
9	chr6:26121790..26128581-chr6:27110404..27116881,10	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H2BC	TF binding region
ENSG00000182611	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000124610	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000124564	Chromatin interaction
ENSG00000196374	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000196787	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1056314	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13161	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1572982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs198800	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs198803	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198809	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs198821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198822	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198823	0.83[CHB][hapmap]
rs198824	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198828	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198829	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198830	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198835	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs198836	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs198837	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs198838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs198840	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs198841	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs198842	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs198843	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs198844	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs198854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs198856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs198857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs198858	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6918586	0.89[YRI][hapmap]

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:123 , 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	chr6:26122600-26127800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:26122600-26127800	Active TSS	Psoas Muscle	Psoas
4	chr6:26122600-26128400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr6:26122800-26128600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:26123000-26127800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr6:26123000-26128000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:26123000-26128000	Active TSS	NHLF	lung
9	chr6:26123200-26127800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:26123200-26127800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:26123200-26127800	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr6:26123200-26128000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:26123200-26128200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:26123200-26128200	Active TSS	HSMMtube	muscle
15	chr6:26124000-26128000	Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr6:26124600-26134200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:26124800-26127800	Active TSS	Right Atrium	heart
18	chr6:26125400-26129200	Transcr. at gene 5' and 3'	K562	blood
19	chr6:26126200-26128000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr6:26126200-26128200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr6:26126400-26128000	Active TSS	Brain Germinal Matrix	brain
22	chr6:26126400-26129000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:26126400-26130000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
24	chr6:26126600-26127800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr6:26126600-26127800	Weak transcription	Spleen	Spleen
26	chr6:26126600-26128000	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
27	chr6:26126600-26128000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr6:26126600-26128000	Flanking Active TSS	NHEK	skin
29	chr6:26126600-26128800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr6:26126600-26129600	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
31	chr6:26126800-26127800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:26126800-26127800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr6:26126800-26127800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:26126800-26127800	Flanking Active TSS	Fetal Brain Male	brain
35	chr6:26126800-26127800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
36	chr6:26126800-26127800	Flanking Active TSS	HepG2	liver
37	chr6:26126800-26127800	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
38	chr6:26126800-26128000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:26126800-26128000	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr6:26126800-26128200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:26126800-26128200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:26126800-26128800	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr6:26126800-26129000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
44	chr6:26127000-26127800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:26127000-26127800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
46	chr6:26127000-26127800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:26127000-26127800	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr6:26127000-26127800	Active TSS	Placenta	Placenta
49	chr6:26127000-26127800	Active TSS	Thymus	Thymus
50	chr6:26127000-26128000	Flanking Active TSS	Primary T cells from cord blood	blood

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