Variant report

Variant	rs73091657
Chromosome Location	chr1:209958257-209958258
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	POLR2A	chr1:209957334-209958389	HUVEC	blood vessel:	n/a	n/a
2	GABPA	chr1:209957712-209958396	HL-60	blood:	n/a	chr1:209957898-209957912 chr1:209957900-209957909 chr1:209957898-209957907 chr1:209957898-209957909 chr1:209957895-209957909
3	SIN3AK20	chr1:209957626-209958290	SK-N-SH	brain:	n/a	n/a
4	GABPA	chr1:209957715-209958602	K562	blood:	n/a	chr1:209957898-209957912 chr1:209957900-209957909 chr1:209957898-209957907 chr1:209957898-209957909 chr1:209957895-209957909
5	POLR2A	chr1:209957624-209958689	GM12891	blood:	n/a	n/a
6	POLR2A	chr1:209957530-209958465	H1-hESC	embryonic stem cell:	n/a	n/a
7	HCFC1	chr1:209957622-209958528	K562	blood:	n/a	n/a
8	ELF1	chr1:209957543-209958413	GM12878	blood:	n/a	chr1:209958087-209958100
9	BRCA1	chr1:209957435-209958264	H1-hESC	embryonic stem cell:	n/a	n/a
10	JUND	chr1:209957622-209958313	A549	lung:	n/a	chr1:209957944-209957953
11	FOXA1	chr1:209957795-209958337	T-47D	breast:	n/a	n/a
12	ZNF143	chr1:209957692-209958284	H1-hESC	embryonic stem cell:	n/a	chr1:209957928-209957947
13	CREB1	chr1:209957567-209958482	K562	blood:	n/a	chr1:209957942-209957955
14	STAT5A	chr1:209957638-209958433	GM12878	blood:	n/a	chr1:209958261-209958268 chr1:209957775-209957783 chr1:209958085-209958097
15	ETS1	chr1:209957558-209958418	A549	lung:	n/a	chr1:209958005-209958018 chr1:209958008-209958017 chr1:209958088-209958103 chr1:209958008-209958017 chr1:209958006-209958015 chr1:209958008-209958017 chr1:209958008-209958017
16	YY1	chr1:209957678-209958323	SK-N-SH_RA	brain:	n/a	n/a
17	ZBTB33	chr1:209957631-209958312	HCT-116	colon:	n/a	n/a
18	SPI1	chr1:209957906-209958261	K562	blood:	n/a	n/a
19	POLR2A	chr1:209957682-209958310	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr1:209957517-209958312	K562	blood:	n/a	n/a
21	IRF4	chr1:209957738-209958344	GM12878	blood:	n/a	n/a
22	SMC3	chr1:209957660-209958498	GM12878	blood:	n/a	n/a
23	USF2	chr1:209957570-209958562	Hela-S3	cervix:	n/a	n/a
24	STAT3	chr1:209957931-209958266	MCF10A-Er-Src	breast:	n/a	chr1:209958085-209958097
25	SETDB1	chr1:209957772-209958507	U2OS	brain:	n/a	chr1:209957899-209957908
26	ELF1	chr1:209957525-209958516	HCT-116	colon:	n/a	chr1:209958087-209958100
27	HEY1	chr1:209957538-209958387	K562	blood:	n/a	chr1:209957943-209957952 chr1:209957945-209957954
28	ZBTB33	chr1:209957427-209958434	SK-N-SH	brain:	n/a	n/a
29	TBP	chr1:209957606-209958468	H1-hESC	embryonic stem cell:	n/a	n/a
30	ELF1	chr1:209957807-209958363	A549	lung:	n/a	chr1:209958087-209958100
31	GABPA	chr1:209957687-209958307	H1-hESC	embryonic stem cell:	n/a	chr1:209957898-209957912 chr1:209957900-209957909 chr1:209957898-209957907 chr1:209957898-209957909 chr1:209957895-209957909
32	POLR2A	chr1:209957425-209958480	U87	brain:	n/a	n/a
33	SIX5	chr1:209957489-209958482	A549	lung:	n/a	n/a
34	EP300	chr1:209957631-209958323	GM12878	blood:	n/a	chr1:209958009-209958016
35	POLR2A	chr1:209957610-209958361	GM15510	blood:	n/a	n/a
36	POLR2A	chr1:209957547-209958448	MCF-7	breast:	n/a	n/a
37	CHD2	chr1:209957620-209958301	HepG2	liver:	n/a	n/a
38	GTF2F1	chr1:209957473-209958541	Hela-S3	cervix:	n/a	n/a
39	GABPA	chr1:209957445-209958644	MCF-7	breast:	n/a	chr1:209957898-209957912 chr1:209957900-209957909 chr1:209957898-209957907 chr1:209957898-209957909 chr1:209957895-209957909
40	MYC	chr1:209957554-209958577	K562	blood:	n/a	chr1:209957805-209957814
41	POLR2A	chr1:209957130-209958520	K562	blood:	n/a	n/a
42	MAX	chr1:209957823-209958361	MCF-7	breast:	n/a	n/a
43	POLR2A	chr1:209957064-209958382	K562	blood:	n/a	n/a
44	POLR2A	chr1:209957601-209958332	GM12891	blood:	n/a	n/a
45	MAX	chr1:209957529-209958341	K562	blood:	n/a	chr1:209957805-209957814
46	POLR2A	chr1:209956332-209958483	SK-N-MC	brain:	n/a	n/a
47	GABPA	chr1:209957574-209958656	A549	lung:	n/a	chr1:209957898-209957912 chr1:209957900-209957909 chr1:209957898-209957907 chr1:209957898-209957909 chr1:209957895-209957909
48	MAX	chr1:209957441-209958506	ECC-1	luminal epithelium:	n/a	chr1:209957805-209957814
49	POLR2A	chr1:209957561-209958312	ECC-1	luminal epithelium:	n/a	n/a
50	ZMIZ1	chr1:209957390-209958589	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:209955222..209959394-chr1:210545816..210547914,4	K562	blood:
2	chr1:209946631..209949857-chr1:209956266..209959109,3	MCF-7	breast:
3	chr1:209957820..209958586-chr4:100871003..100871812,2	Hela-S3	cervix:
4	chr1:209955520..209962214-chr1:209976009..209982555,8	K562	blood:
5	chr1:209940429..209942619-chr1:209957623..209959222,2	MCF-7	breast:
6	chr1:209957348..209959526-chr1:209965730..209967837,2	K562	blood:
7	chr1:209950429..209953463-chr1:209956092..209959569,7	K562	blood:
8	chr1:209957965..209959806-chr1:209959959..209962744,2	K562	blood:
9	chr1:209954505..209956563-chr1:209958183..209960148,2	K562	blood:
10	chr1:209953015..209954990-chr1:209956352..209958315,2	MCF-7	breast:
11	chr1:209957266..209960368-chr1:209964452..209967778,3	MCF-7	breast:
12	chr1:209955602..209959674-chr1:209962858..209967873,6	MCF-7	breast:
13	chr1:209957470..209958337-chr20:54967247..54968022,2	Hela-S3	cervix:
14	chr1:209956289..209959543-chr1:209978892..209981541,4	K562	blood:
15	chr1:209957393..209958342-chr17:56736402..56737021,2	Hela-S3	cervix:

Variant related genes	Relation type
C1orf74	TF binding region
ENSG00000200972	Chromatin interaction
ENSG00000117595	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000101138	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000232222	Chromatin interaction
ENSG00000009790	Chromatin interaction
ENSG00000087586	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73093826	0.87[AFR][1000 genomes]
rs73093855	0.87[AFR][1000 genomes]
rs73093867	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1006632	chr1:209886202-209970355	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv4343	chr1:209929932-209974877	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1067914	chr1:209955818-209972979	Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
7	nsv945273	chr1:209958252-209960036	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209956600-209958400	Flanking Active TSS	Duodenum Mucosa	Duodenum
2	chr1:209956800-209958400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr1:209956800-209958400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:209956800-209958600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:209956800-209958600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr1:209956800-209958600	Active TSS	HSMM	muscle
7	chr1:209957000-209958400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr1:209957000-209958400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:209957000-209958600	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr1:209957000-209958600	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:209957000-209958600	Active TSS	Brain Germinal Matrix	brain
12	chr1:209957000-209958600	Active TSS	Fetal Kidney	kidney
13	chr1:209957200-209958400	Active TSS	H1 Cell Line	embryonic stem cell
14	chr1:209957200-209958400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:209957200-209958400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:209957200-209958400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:209957200-209958400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:209957200-209958400	Active TSS	Left Ventricle	heart
19	chr1:209957200-209958400	Active TSS	Psoas Muscle	Psoas
20	chr1:209957200-209958400	Flanking Active TSS	Thymus	Thymus
21	chr1:209957200-209958600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:209957200-209958600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr1:209957200-209958600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:209957200-209958600	Active TSS	HSMMtube	muscle
25	chr1:209957200-209958800	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr1:209957400-209958400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr1:209957400-209958400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:209957400-209958400	Active TSS	Aorta	Aorta
29	chr1:209957400-209958400	Active TSS	Brain Hippocampus Middle	brain
30	chr1:209957400-209958400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:209957400-209958400	Active TSS	Esophagus	oesophagus
32	chr1:209957400-209958400	Active TSS	Lung	lung
33	chr1:209957400-209958400	Active TSS	Ovary	ovary
34	chr1:209957400-209958400	Active TSS	Pancreas	Pancrea
35	chr1:209957400-209958400	Active TSS	Right Atrium	heart
36	chr1:209957400-209958400	Active TSS	Right Ventricle	heart
37	chr1:209957400-209958400	Active TSS	Small Intestine	intestine
38	chr1:209957400-209958600	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr1:209957400-209958600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr1:209957400-209958600	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr1:209957400-209958600	Active TSS	Fetal Brain Female	brain
42	chr1:209957400-209958600	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr1:209957400-209958600	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr1:209957600-209958400	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr1:209957600-209958400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:209957600-209958400	Active TSS	Fetal Muscle Trunk	muscle
47	chr1:209957600-209958600	Active TSS	Brain Angular Gyrus	brain
48	chr1:209957600-209958600	Active TSS	Brain Anterior Caudate	brain
49	chr1:209957600-209958600	Active TSS	Fetal Brain Male	brain
50	chr1:209957800-209978600	Weak transcription	Spleen	Spleen

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