Variant report

Variant	rs73737997
Chromosome Location	chr6:26988375-26988376
allele	A/G
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	NFIC	chr6:26987315-26988431	GM12878	blood:	n/a	n/a
2	CTCF	chr6:26988370-26988431	Fibrobl	skin:	n/a	n/a
3	MAX	chr6:26987249-26988443	A549	lung:	n/a	chr6:26987597-26987613
4	POLR2A	chr6:26987180-26988394	SK-N-MC	brain:	n/a	n/a
5	SRF	chr6:26987824-26988529	ECC-1	luminal epithelium:	n/a	n/a
6	E2F6	chr6:26987462-26988412	K562	blood:	n/a	chr6:26988021-26988035
7	IRF1	chr6:26987757-26988376	K562	blood:	n/a	chr6:26987897-26987917 chr6:26987903-26987914 chr6:26987901-26987915 chr6:26987895-26987912 chr6:26987901-26987918 chr6:26987899-26987916 chr6:26987903-26987916 chr6:26987898-26987911 chr6:26987902-26987916
8	MAX	chr6:26987382-26988391	H1-hESC	embryonic stem cell:	n/a	chr6:26987597-26987613
9	RUNX3	chr6:26987410-26988413	GM12878	blood:	n/a	n/a
10	SREBP2	chr6:26987716-26989036	GM12878	blood:	n/a	n/a
11	ZNF143	chr6:26987752-26988419	K562	blood:	n/a	n/a
12	TAF1	chr6:26987286-26988416	H1-hESC	embryonic stem cell:	n/a	n/a
13	SP1	chr6:26987425-26988489	A549	lung:	n/a	n/a
14	NFATC1	chr6:26987537-26988492	GM12878	blood:	n/a	n/a
15	GABPA	chr6:26987393-26988560	SK-N-SH	brain:	n/a	n/a
16	GABPA	chr6:26987342-26988459	SK-N-SH	brain:	n/a	n/a
17	SRF	chr6:26987664-26988470	MCF-7	breast:	n/a	n/a
18	POLR2A	chr6:26987446-26988376	MCF-7	breast:	n/a	n/a
19	ZNF263	chr6:26987373-26988524	HEK293-T-REx	kidney:	n/a	n/a
20	CREB1	chr6:26987833-26988414	H1-hESC	embryonic stem cell:	n/a	n/a
21	IRF1	chr6:26987580-26988431	K562	blood:	n/a	chr6:26987897-26987917 chr6:26987903-26987914 chr6:26987901-26987915 chr6:26987895-26987912 chr6:26987901-26987918 chr6:26987899-26987916 chr6:26987903-26987916 chr6:26987898-26987911 chr6:26987902-26987916
22	POLR2A	chr6:26987390-26988470	GM12878	blood:	n/a	n/a
23	CEBPD	chr6:26987377-26988390	K562	blood:	n/a	n/a
24	CBX3	chr6:26987361-26988563	K562	blood:	n/a	n/a
25	NR2F2	chr6:26987221-26988448	K562	blood:	n/a	n/a
26	SRF	chr6:26987669-26988578	HCT-116	colon:	n/a	chr6:26988560-26988574 chr6:26988562-26988575 chr6:26988563-26988577
27	ELK1	chr6:26987879-26988386	K562	blood:	n/a	n/a
28	POLR2A	chr6:26987067-26988504	H1-hESC	embryonic stem cell:	n/a	n/a
29	ELK1	chr6:26987471-26988461	Hela-S3	cervix:	n/a	n/a
30	MTA3	chr6:26987216-26988600	GM12878	blood:	n/a	n/a
31	CEBPB	chr6:26987296-26988493	MCF-7	breast:	n/a	chr6:26987673-26987682 chr6:26988130-26988141 chr6:26987671-26987682 chr6:26987673-26987682
32	GABPA	chr6:26987128-26988715	MCF-7	breast:	n/a	n/a
33	SIN3AK20	chr6:26987512-26988482	MCF-7	breast:	n/a	n/a
34	GTF3C2	chr6:26987920-26988556	K562	blood:	n/a	n/a
35	MAX	chr6:26987371-26988439	SK-N-SH	brain:	n/a	chr6:26987597-26987613
36	SIX5	chr6:26987673-26988533	A549	lung:	n/a	n/a
37	TEAD4	chr6:26987505-26988477	ECC-1	luminal epithelium:	n/a	n/a
38	JUND	chr6:26987553-26988405	H1-hESC	embryonic stem cell:	n/a	n/a
39	ATF3	chr6:26987804-26988568	A549	lung:	n/a	chr6:26988025-26988034 chr6:26988027-26988036
40	ATF2	chr6:26987181-26988493	H1-hESC	embryonic stem cell:	n/a	n/a
41	EP300	chr6:26987412-26988548	ECC-1	luminal epithelium:	n/a	chr6:26988106-26988113 chr6:26988059-26988069
42	ATF2	chr6:26987616-26988436	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr6:26987411-26988435	PANC-1	pancreas:	n/a	n/a
44	CEBPB	chr6:26987500-26988397	K562	blood:	n/a	chr6:26987673-26987682 chr6:26988130-26988141 chr6:26987671-26987682 chr6:26987673-26987682
45	CREB1	chr6:26987500-26988393	K562	blood:	n/a	n/a
46	CEBPB	chr6:26987388-26988449	ECC-1	luminal epithelium:	n/a	chr6:26987673-26987682 chr6:26988130-26988141 chr6:26987671-26987682 chr6:26987673-26987682
47	MXI1	chr6:26987454-26988386	H1-hESC	embryonic stem cell:	n/a	n/a
48	TEAD4	chr6:26987874-26988396	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr6:26987393-26988476	MCF-7	breast:	n/a	chr6:26987673-26987682 chr6:26988130-26988141 chr6:26987671-26987682 chr6:26987673-26987682
50	RCOR1	chr6:26987459-26988383	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:26986672..26989789-chr6:27000178..27003902,5	K562	blood:
2	chr6:26987473..26989344-chr6:26998770..27002540,3	MCF-7	breast:
3	chr6:26986141..26989315-chr6:27099693..27102722,3	K562	blood:
4	chr6:26596362..26598030-chr6:26986586..26989465,2	MCF-7	breast:
5	chr6:26923074..26925467-chr6:26986570..26988926,2	K562	blood:
6	chr6:26987456..26989789-chr6:27000178..27002693,2	K562	blood:
7	chr6:26595477..26598975-chr6:26986599..26989051,3	K562	blood:
8	chr6:26987953..26990006-chr6:27113419..27115152,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIST1H2AG-2	chr6:26988232-26988434	ENSG00000224843
2	lnc-HIST1H2AG-3	chr6:26988232-26991804	NONHSAT108325
3	lnc-HIST1H2BJ-8	chr6:26985858-26989416	NONHSAT108322

Variant related genes	Relation type
LINC00240	TF binding region
ENSG00000184825	Chromatin interaction
ENSG00000146109	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000224843	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000220581	Chromatin interaction
ENSG00000241549	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10484392	1.00[AMR][1000 genomes]
rs10484394	1.00[AMR][1000 genomes]
rs1102566	1.00[AMR][1000 genomes]
rs1102568	1.00[AMR][1000 genomes]
rs11753245	1.00[AMR][1000 genomes]
rs11753378	1.00[AMR][1000 genomes]
rs11753580	1.00[AMR][1000 genomes]
rs11755519	1.00[AMR][1000 genomes]
rs11755651	1.00[AMR][1000 genomes]
rs11755813	1.00[AMR][1000 genomes]
rs11756304	1.00[AMR][1000 genomes]
rs11757963	1.00[AMR][1000 genomes]
rs11759167	1.00[AMR][1000 genomes]
rs11759771	1.00[AMR][1000 genomes]
rs16894241	1.00[AMR][1000 genomes]
rs16894520	1.00[AMR][1000 genomes]
rs16895602	1.00[AMR][1000 genomes]
rs2021278	1.00[AMR][1000 genomes]
rs2022271	1.00[AMR][1000 genomes]
rs55656206	1.00[AMR][1000 genomes]
rs55867104	1.00[AMR][1000 genomes]
rs56156722	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58900251	1.00[AMR][1000 genomes]
rs59757260	1.00[AMR][1000 genomes]
rs60259667	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61185098	1.00[AMR][1000 genomes]
rs73737999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73738226	1.00[AMR][1000 genomes]
rs73738236	1.00[AMR][1000 genomes]
rs73738237	1.00[AMR][1000 genomes]
rs73739510	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739515	1.00[AMR][1000 genomes]
rs73739517	1.00[AMR][1000 genomes]
rs73739519	1.00[AMR][1000 genomes]
rs73739521	1.00[AMR][1000 genomes]
rs73739522	1.00[AMR][1000 genomes]
rs73739531	1.00[AMR][1000 genomes]
rs73739534	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739545	1.00[AMR][1000 genomes]
rs73739557	1.00[AMR][1000 genomes]
rs73739578	1.00[AMR][1000 genomes]
rs73739581	1.00[AMR][1000 genomes]
rs73739582	1.00[AMR][1000 genomes]
rs73739586	1.00[AMR][1000 genomes]
rs73739587	1.00[AMR][1000 genomes]
rs73739589	1.00[AMR][1000 genomes]
rs73739591	1.00[AMR][1000 genomes]
rs73739594	1.00[AMR][1000 genomes]
rs73739595	1.00[AMR][1000 genomes]
rs73739598	1.00[AMR][1000 genomes]
rs73739600	1.00[AMR][1000 genomes]
rs73740404	1.00[AMR][1000 genomes]
rs73740405	1.00[AMR][1000 genomes]
rs73740406	1.00[AMR][1000 genomes]
rs73740409	1.00[AMR][1000 genomes]
rs73740414	1.00[AMR][1000 genomes]
rs73740432	1.00[AMR][1000 genomes]
rs7449898	1.00[AMR][1000 genomes]
rs858966	1.00[AMR][1000 genomes]
rs858971	1.00[AMR][1000 genomes]
rs9366681	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs996246	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	esv2758038	chr6:26695219-27095714	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
3	esv2759410	chr6:26695219-27095714	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
4	nsv1029124	chr6:26825468-27109774	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	244 gene(s)	inside rSNPs	diseases
5	nsv469610	chr6:26841083-26999230	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv482509	chr6:26841083-26999230	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv471636	chr6:26841084-27038175	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv469675	chr6:26848950-27015598	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv482429	chr6:26848950-27015598	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv830616	chr6:26859097-27030476	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	esv1810582	chr6:26889428-26990246	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv469625	chr6:26893739-27038175	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	nsv482537	chr6:26893739-27038175	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26986200-26988600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr6:26986200-26988600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:26986200-26988800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:26986400-26988400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr6:26986400-26988600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:26986400-26988800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:26986400-26988800	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr6:26986600-26988400	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr6:26986600-26988600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr6:26986600-26988600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:26986600-26988600	Active TSS	Brain Cingulate Gyrus	brain
12	chr6:26986600-26988600	Active TSS	Brain Hippocampus Middle	brain
13	chr6:26986600-26988600	Active TSS	Fetal Brain Female	brain
14	chr6:26986600-26988600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr6:26986600-26988600	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr6:26986600-26988600	Active TSS	Stomach Smooth Muscle	stomach
17	chr6:26986800-26988400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:26986800-26988400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:26986800-26988400	Active TSS	Fetal Heart	heart
20	chr6:26986800-26988400	Active TSS	Psoas Muscle	Psoas
21	chr6:26986800-26988400	Active TSS	NHLF	lung
22	chr6:26986800-26988600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr6:26986800-26988600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:26986800-26988600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:26986800-26988600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:26986800-26988600	Active TSS	Brain Angular Gyrus	brain
27	chr6:26986800-26988600	Active TSS	Brain Anterior Caudate	brain
28	chr6:26986800-26988600	Active TSS	Fetal Intestine Large	intestine
29	chr6:26986800-26988600	Active TSS	Rectal Smooth Muscle	rectum
30	chr6:26986800-26988600	Active TSS	Right Ventricle	heart
31	chr6:26986800-26988600	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr6:26986800-26988600	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr6:26986800-26988600	Active TSS	NHDF-Ad	bronchial
34	chr6:26986800-26988800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:26986800-26988800	Active TSS	Duodenum Mucosa	Duodenum
36	chr6:26987000-26988400	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr6:26987000-26988400	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr6:26987000-26988400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:26987000-26988400	Active TSS	Ovary	ovary
40	chr6:26987000-26988400	Active TSS	Placenta Amnion	Placenta Amnion
41	chr6:26987000-26988400	Active TSS	A549	lung
42	chr6:26987000-26988600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:26987000-26988600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:26987000-26988600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:26987000-26988600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:26987000-26988600	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr6:26987000-26988600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr6:26987000-26988600	Active TSS	Right Atrium	heart
49	chr6:26987000-26989000	Active TSS	Fetal Kidney	kidney
50	chr6:26987000-26990200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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