Variant report

Variant	rs73736558
Chromosome Location	chr6:26194966-26194967
allele	A/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	chr6:26193825-26201103	K562	blood:	n/a	n/a
2	CBX3	chr6:26193283-26196546	K562	blood:	n/a	n/a
3	POLR2A	chr6:26187684-26208312	K562	blood:	n/a	n/a
4	ATF2	chr6:26194955-26200949	H1-hESC	embryonic stem cell:	n/a	n/a
5	EGR1	chr6:26194439-26196463	K562	blood:	n/a	n/a
6	BCLAF1	chr6:26192611-26200894	K562	blood:	n/a	n/a
7	MEF2A	chr6:26194135-26196193	K562	blood:	n/a	chr6:26195361-26195382 chr6:26195194-26195209 chr6:26195365-26195376 chr6:26195364-26195375 chr6:26195361-26195382 chr6:26195366-26195375 chr6:26195363-26195378 chr6:26195362-26195378
8	KAP1	chr6:26193227-26195074	K562	blood:	n/a	n/a
9	POLR2A	chr6:26194353-26195284	H1-hESC	embryonic stem cell:	n/a	n/a
10	PML	chr6:26193184-26200952	K562	blood:	n/a	n/a
11	POLR2A	chr6:26194956-26195142	Hela-S3	cervix:	n/a	n/a
12	TAF7	chr6:26194455-26200989	H1-hESC	embryonic stem cell:	n/a	n/a
13	TEAD4	chr6:26193268-26200973	K562	blood:	n/a	n/a
14	TBL1XR1	chr6:26194486-26196087	K562	blood:	n/a	n/a
15	POLR2A	chr6:26192524-26200729	K562	blood:	n/a	n/a
16	CHD1	chr6:26194887-26201053	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL3	chr6:26193185-26196350	K562	blood:	n/a	n/a
18	CEBPD	chr6:26192433-26197914	K562	blood:	n/a	n/a
19	NR2F2	chr6:26191179-26197120	K562	blood:	n/a	n/a
20	BACH1	chr6:26193551-26195975	K562	blood:	n/a	n/a
21	POLR2A	chr6:26186607-26208345	K562	blood:	n/a	n/a
22	RFX5	chr6:26194653-26196869	SK-N-SH	brain:	n/a	chr6:26195687-26195696
23	CHD2	chr6:26192536-26196079	K562	blood:	n/a	n/a
24	POLR2A	chr6:26193612-26202893	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr6:26193588-26200910	Hela-S3	cervix:	n/a	n/a
26	BCLAF1	chr6:26191244-26200903	K562	blood:	n/a	n/a
27	EBF1	chr6:26194597-26195005	GM12878	blood:	n/a	chr6:26194798-26194809 chr6:26194798-26194811 chr6:26194800-26194810
28	STAT5A	chr6:26193698-26196183	K562	blood:	n/a	n/a
29	HEY1	chr6:26193691-26200899	K562	blood:	n/a	n/a
30	SIN3AK20	chr6:26193580-26196774	K562	blood:	n/a	n/a
31	POLR2A	chr6:26194472-26195246	H1-hESC	embryonic stem cell:	n/a	n/a
32	MXI1	chr6:26193992-26195982	K562	blood:	n/a	n/a
33	POLR2A	chr6:26194966-26195214	GM12878	blood:	n/a	n/a
34	GATA2	chr6:26193703-26195311	K562	blood:	n/a	chr6:26194340-26194361 chr6:26194056-26194072 chr6:26194061-26194068

No.	Distal block	Cell Line	Cell type
1	chr20:57466580..57468767-chr6:26193927..26196753,2	K562	blood:
2	chr20:52209897..52212394-chr6:26193442..26195698,2	MCF-7	breast:
3	chr6:26193858..26202011-chr6:27112529..27117825,14	K562	blood:
4	chr6:26193549..26195260-chr6:27144695..27146377,2	MCF-7	breast:
5	chr6:26194059..26195654-chr6:27792019..27794914,2	MCF-7	breast:
6	chr6:26193666..26195814-chr6:26420014..26422966,2	K562	blood:
7	chr6:26192740..26195771-chr6:27833184..27836836,3	MCF-7	breast:
8	chr6:26193865..26195647-chr6:26428067..26430005,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIST1H3D-1	chr6:26194498-26196362	ncRnaDb_ncrna_FR022763_1

Variant related genes	Relation type
HIST1H1PS1	TF binding region
HIST1H2BF	TF binding region
ENSG00000265565	Chromatin interaction
ENSG00000087460	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000124549	Chromatin interaction
ENSG00000184357	Chromatin interaction
ENSG00000184825	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs41266825	1.00[AMR][1000 genomes]
rs55674533	1.00[AMR][1000 genomes]
rs56049309	1.00[AMR][1000 genomes]
rs56973463	1.00[AMR][1000 genomes]
rs59620817	1.00[AMR][1000 genomes]
rs73736553	1.00[AMR][1000 genomes]
rs73736561	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73736574	1.00[AMR][1000 genomes]
rs73736577	1.00[AMR][1000 genomes]
rs73736578	1.00[AMR][1000 genomes]
rs73736580	1.00[AMR][1000 genomes]
rs73736581	1.00[AMR][1000 genomes]
rs73736582	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
13	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
14	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
15	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
16	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
17	nsv518431	chr6:26148311-26211368	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	521 gene(s)	inside rSNPs	diseases
18	nsv526456	chr6:26148311-26211368	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	521 gene(s)	inside rSNPs	diseases
19	nsv883490	chr6:26172219-26231608	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	316 gene(s)	inside rSNPs	diseases
20	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26189400-26195000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr6:26189400-26195200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr6:26189400-26195200	Weak transcription	NHLF	lung
4	chr6:26189400-26195400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:26189400-26195400	Weak transcription	HMEC	breast
6	chr6:26189400-26195800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:26189600-26195000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:26189600-26195000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:26189600-26195000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:26189600-26195200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:26189800-26195000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:26189800-26195000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:26189800-26195000	Weak transcription	Fetal Brain Male	brain
14	chr6:26190000-26195000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr6:26190000-26195000	Weak transcription	Liver	Liver
16	chr6:26190000-26195000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:26190000-26195200	Weak transcription	Fetal Stomach	stomach
18	chr6:26190200-26195000	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:26190400-26195000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:26190400-26195000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:26190400-26195000	Weak transcription	Fetal Heart	heart
22	chr6:26193000-26195000	Weak transcription	NH-A	brain
23	chr6:26193600-26198400	Transcr. at gene 5' and 3'	K562	blood
24	chr6:26193800-26195000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:26193800-26195000	Weak transcription	Fetal Brain Female	brain
26	chr6:26194000-26195000	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr6:26194200-26195000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:26194200-26195800	Active TSS	Thymus	Thymus
29	chr6:26194200-26200600	Active TSS	GM12878-XiMat	blood
30	chr6:26194400-26195000	Enhancers	Hela-S3	cervix
31	chr6:26194400-26195200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:26194600-26195000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:26194600-26195000	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr6:26194600-26195000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr6:26194600-26195000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr6:26194600-26195000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:26194600-26195000	Enhancers	Brain Germinal Matrix	brain
38	chr6:26194600-26195000	Enhancers	Fetal Intestine Small	intestine
39	chr6:26194600-26195000	Enhancers	Fetal Kidney	kidney
40	chr6:26194600-26195000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
41	chr6:26194600-26195000	Enhancers	HepG2	liver
42	chr6:26194600-26195000	Enhancers	NHDF-Ad	bronchial
43	chr6:26194600-26195200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:26194600-26195200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr6:26194600-26195200	Enhancers	Duodenum Mucosa	Duodenum
46	chr6:26194600-26195200	Enhancers	Fetal Lung	lung
47	chr6:26194600-26195400	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr6:26194600-26195400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr6:26194600-26195600	Flanking Active TSS	Dnd41	blood
50	chr6:26194600-26196400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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