Variant report

Variant	rs73846074
Chromosome Location	chr3:93699011-93699012
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:312)
CpG islands
(count:122)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr3:93698381-93699640	MCF-7	breast:	n/a	n/a
2	POLR2A	chr3:93698782-93699331	GM12891	blood:	n/a	n/a
3	MAFK	chr3:93698674-93699397	K562	blood:	n/a	n/a
4	POLR2A	chr3:93698801-93699423	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr3:93698833-93699134	GM12878	blood:	n/a	n/a
6	MXI1	chr3:93698600-93699419	GM12878	blood:	n/a	chr3:93698944-93698959
7	TAF1	chr3:93698784-93699299	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr3:93698828-93699509	GM12891	blood:	n/a	n/a
9	TAF1	chr3:93698884-93699178	SK-N-SH	brain:	n/a	n/a
10	ELF1	chr3:93698668-93699527	GM12878	blood:	n/a	n/a
11	POLR2A	chr3:93698886-93699291	GM12891	blood:	n/a	n/a
12	EGR1	chr3:93698720-93699366	GM12878	blood:	n/a	n/a
13	HDAC2	chr3:93698658-93699588	MCF-7	breast:	n/a	chr3:93698664-93698678
14	SIN3A	chr3:93698606-93699499	GM12878	blood:	n/a	n/a
15	TBP	chr3:93698685-93699573	H1-hESC	embryonic stem cell:	n/a	n/a
16	SIN3AK20	chr3:93698630-93699489	HepG2	liver:	n/a	n/a
17	POLR2A	chr3:93698935-93699264	HUVEC	blood vessel:	n/a	n/a
18	IRF3	chr3:93698654-93699108	GM12878	blood:	n/a	chr3:93698803-93698817 chr3:93698834-93698846 chr3:93698831-93698845 chr3:93698835-93698849 chr3:93698835-93698845
19	POLR2A	chr3:93698826-93699395	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr3:93698729-93699373	GM12892	blood:	n/a	n/a
21	YY1	chr3:93698943-93699493	GM12878	blood:	n/a	n/a
22	MAX	chr3:93698703-93699505	K562	blood:	n/a	n/a
23	HEY1	chr3:93698907-93699170	HepG2	liver:	n/a	n/a
24	CREB1	chr3:93698582-93699453	GM12878	blood:	n/a	n/a
25	POLR2A	chr3:93698710-93699569	GM12892	blood:	n/a	n/a
26	POLR2A	chr3:93698840-93699347	GM12878	blood:	n/a	n/a
27	BHLHE40	chr3:93698432-93699352	K562	blood:	n/a	n/a
28	E2F6	chr3:93698770-93699454	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr3:93698847-93699385	K562	blood:	n/a	n/a
30	POLR2A	chr3:93698639-93699550	H1-hESC	embryonic stem cell:	n/a	n/a
31	TCF12	chr3:93698707-93699589	A549	lung:	n/a	chr3:93699338-93699348 chr3:93699337-93699344
32	YY1	chr3:93698942-93699092	K562	blood:	n/a	n/a
33	RCOR1	chr3:93698769-93699444	HepG2	liver:	n/a	n/a
34	ELF1	chr3:93698647-93699257	MCF-7	breast:	n/a	n/a
35	POLR2A	chr3:93698820-93699376	HEK293	kidney:	n/a	n/a
36	MXI1	chr3:93698416-93699858	IMR90	lung:	n/a	chr3:93698944-93698959
37	SP1	chr3:93698682-93699184	H1-hESC	embryonic stem cell:	n/a	chr3:93698806-93698820 chr3:93698805-93698817
38	POLR2A	chr3:93698851-93699460	GM12878	blood:	n/a	n/a
39	CEBPB	chr3:93698943-93699110	HepG2	liver:	n/a	n/a
40	MAX	chr3:93698682-93699362	HepG2	liver:	n/a	n/a
41	MYC	chr3:93698620-93699148	MCF10A-Er-Src	breast:	n/a	n/a
42	TAF1	chr3:93698835-93699407	SK-N-SH	brain:	n/a	n/a
43	GATA3	chr3:93698579-93699129	T-47D	breast:	n/a	chr3:93698755-93698764 chr3:93698667-93698677
44	UBTF	chr3:93698837-93699633	K562	blood:	n/a	n/a
45	REST	chr3:93698905-93699169	A549	lung:	n/a	n/a
46	MAX	chr3:93698673-93699787	Hela-S3	cervix:	n/a	n/a
47	BCLAF1	chr3:93698872-93699504	GM12878	blood:	n/a	n/a
48	TCF12	chr3:93698798-93699567	ECC-1	luminal epithelium:	n/a	chr3:93699338-93699348 chr3:93699337-93699344
49	MAX	chr3:93698714-93699509	SK-N-SH	brain:	n/a	n/a
50	CHD2	chr3:93698740-93699634	H1-hESC	embryonic stem cell:	n/a	chr3:93699383-93699393

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:93698966-93699016	Caco-2	colon:	n/a
2	chr3:93698966-93699016	AG10803	skin:	n/a
3	chr3:93698964-93699014	ProgFib	skin:	n/a
4	chr3:93698964-93699014	GM12891	blood:	n/a
5	chr3:93698966-93699016	A549	lung:	n/a
6	chr3:93698964-93699014	IMR90	lung:	fetal
7	chr3:93698966-93699016	HepG2	liver:	n/a
8	chr3:93698964-93699014	HRPEpiC	eye:	n/a
9	chr3:93698966-93699016	HIPEpiC	eye:	n/a
10	chr3:93698966-93699016	U87	brain:	n/a
11	chr3:93698964-93699014	ECC-1	luminal epithelium:	n/a
12	chr3:93698964-93699014	NB4	blood:	n/a
13	chr3:93698966-93699016	AG09309	skin:	n/a
14	chr3:93698964-93699014	T-47D	breast:	n/a
15	chr3:93698966-93699016	HEK293	kidney:	embryo
16	chr3:93698966-93699016	HCT-116	colon:	n/a
17	chr3:93698966-93699016	NH-A	brain:	n/a
18	chr3:93698964-93699014	PrEC	prostate:	n/a
19	chr3:93698964-93699014	NH-A	brain:	n/a
20	chr3:93698966-93699016	IMR90	lung:	fetal
21	chr3:93698964-93699014	HCM	heart:	n/a
22	chr3:93698964-93699014	PFSK-1	brain:	n/a
23	chr3:93698964-93699014	SAEC	small airway:	n/a
24	chr3:93698966-93699016	MCF-7	breast:	n/a
25	chr3:93698966-93699016	NB4	blood:	n/a
26	chr3:93698964-93699014	NT2-D1	testis:	n/a
27	chr3:93698964-93699014	HEK293	kidney:	embryo
28	chr3:93698964-93699014	H1-hESC	embryonic stem cell:	embryo
29	chr3:93698966-93699016	HRE	kidney:	n/a
30	chr3:93698966-93699016	HRCEpiC	kidney:	n/a
31	chr3:93698966-93699016	PANC-1	pancreas:	n/a
32	chr3:93698966-93699016	GM12892	blood:	n/a
33	chr3:93698964-93699014	HAEpiC	amniotic membrane:	n/a
34	chr3:93698964-93699014	HPAEpiC	pulmonary alveolar:	n/a
35	chr3:93698966-93699016	BJ	skin:	n/a
36	chr3:93698966-93699016	HNPCEpiC	eye:	n/a
37	chr3:93698964-93699014	HRCEpiC	kidney:	n/a
38	chr3:93698966-93699016	GM06990	blood:	n/a
39	chr3:93698964-93699014	HCT-116	colon:	n/a
40	chr3:93698964-93699014	AG10803	skin:	n/a
41	chr3:93698964-93699014	MCF-7	breast:	n/a
42	chr3:93698964-93699014	U87	brain:	n/a
43	chr3:93698966-93699016	NT2-D1	testis:	n/a
44	chr3:93698966-93699016	AoSMC	blood vessel:	n/a
45	chr3:93698964-93699014	SK-N-MC	brain:	n/a
46	chr3:93698964-93699014	AoSMC	blood vessel:	n/a
47	chr3:93698966-93699016	K562	blood:	n/a
48	chr3:93698964-93699014	GM19239	blood:	n/a
49	chr3:93698964-93699014	ovcar-3	ovarian:	n/a
50	chr3:93698964-93699014	NHBE	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:93690925..93693157-chr3:93696535..93699093,2	MCF-7	breast:
2	chr3:57582642..57583494-chr3:93698783..93699437,2	Hela-S3	cervix:
3	chr3:93690937..93695495-chr3:93697759..93704969,13	K562	blood:
4	chr12:120906986..120907695-chr3:93698981..93699682,2	Hela-S3	cervix:
5	chr3:93695644..93698458-chr3:93698499..93700134,2	K562	blood:
6	chr3:93691441..93695260-chr3:93696863..93699033,5	MCF-7	breast:

No data

Variant related genes	Relation type
ARL13B	TF binding region
ARL13B	CpG island
ENSG00000111786	Chromatin interaction
ENSG00000168374	Chromatin interaction
ENSG00000184500	Chromatin interaction
ENSG00000272146	Chromatin interaction
ENSG00000200366	Chromatin interaction
ENSG00000088986	Chromatin interaction

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

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

rs_ID	r²[population]
rs57298269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57948991	1.00[AMR][1000 genomes]
rs58594152	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73846069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73846070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73846072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73846075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73846078	1.00[AMR][1000 genomes]
rs73846087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73846089	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73846090	1.00[EUR][1000 genomes]
rs73846091	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73846094	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1002292	chr3:93519466-93736214	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	n/a
2	nsv998051	chr3:93519466-93740680	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	n/a
3	nsv1005328	chr3:93519466-93743921	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	n/a
4	nsv869241	chr3:93527675-94504491	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv998173	chr3:93575084-94427403	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv536644	chr3:93575084-94427403	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1008711	chr3:93575284-94427264	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv536646	chr3:93575284-94427264	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv491829	chr3:93575285-94427263	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv533358	chr3:93575289-93745823	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	n/a
11	nsv916541	chr3:93575289-93758589	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	n/a
12	esv1803747	chr3:93602038-93759079	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
13	esv1795060	chr3:93602038-93848525	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	n/a
14	esv1791740	chr3:93602927-93849247	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	n/a
15	esv2755326	chr3:93605126-93882750	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	n/a
16	nsv1003434	chr3:93654100-93740824	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
17	nsv536647	chr3:93654100-93740824	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
18	nsv1013107	chr3:93654100-94102212	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
19	nsv536648	chr3:93654100-94102212	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
20	nsv1004176	chr3:93654100-94502551	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:93698200-93699800	Active TSS	Brain Cingulate Gyrus	brain
2	chr3:93698200-93700000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:93698200-93700000	Active TSS	Stomach Smooth Muscle	stomach
4	chr3:93698200-93700000	Active TSS	HepG2	liver
5	chr3:93698200-93700600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr3:93698200-93701000	Active TSS	Brain Anterior Caudate	brain
7	chr3:93698400-93699200	Active TSS	Colonic Mucosa	Colon
8	chr3:93698400-93699400	Active TSS	Primary T cells from cord blood	blood
9	chr3:93698400-93699600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:93698400-93699600	Active TSS	Brain Substantia Nigra	brain
11	chr3:93698400-93699600	Active TSS	Fetal Kidney	kidney
12	chr3:93698400-93699600	Active TSS	Left Ventricle	heart
13	chr3:93698400-93699800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr3:93698400-93699800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr3:93698400-93699800	Active TSS	Fetal Muscle Trunk	muscle
16	chr3:93698400-93699800	Active TSS	Ovary	ovary
17	chr3:93698400-93699800	Active TSS	Psoas Muscle	Psoas
18	chr3:93698400-93699800	Active TSS	Right Atrium	heart
19	chr3:93698400-93699800	Active TSS	Right Ventricle	heart
20	chr3:93698400-93699800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr3:93698400-93699800	Active TSS	HSMM	muscle
22	chr3:93698400-93700000	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr3:93698400-93700000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:93698400-93700000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:93698400-93700000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:93698400-93700000	Active TSS	Brain Angular Gyrus	brain
27	chr3:93698400-93700000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:93698400-93700000	Active TSS	NHDF-Ad	bronchial
29	chr3:93698400-93700200	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr3:93698400-93700200	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr3:93698400-93700200	Active TSS	NHLF	lung
32	chr3:93698400-93700400	Active TSS	Fetal Brain Female	brain
33	chr3:93698600-93699200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:93698600-93699200	Active TSS	Placenta	Placenta
35	chr3:93698600-93699400	Active TSS	Primary B cells from cord blood	blood
36	chr3:93698600-93699400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr3:93698600-93699400	Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr3:93698600-93699400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr3:93698600-93699400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:93698600-93699400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:93698600-93699600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:93698600-93699600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr3:93698600-93699600	Active TSS	Duodenum Mucosa	Duodenum
44	chr3:93698600-93699600	Active TSS	Esophagus	oesophagus
45	chr3:93698600-93699600	Active TSS	Fetal Brain Male	brain
46	chr3:93698600-93699600	Active TSS	Fetal Intestine Large	intestine
47	chr3:93698600-93699600	Active TSS	Fetal Stomach	stomach
48	chr3:93698600-93699600	Active TSS	Gastric	stomach
49	chr3:93698600-93699600	Active TSS	Lung	lung
50	chr3:93698600-93699600	Active TSS	Pancreas	Pancrea

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