Variant report

Variant	rs73358448
Chromosome Location	chr7:55955641-55955642
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr7:55955641-55955878	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr7:55954912-55955762	GM15510	blood:	n/a	n/a
3	POLR2A	chr7:55955604-55955798	MCF10A-Er-Src	breast:	n/a	n/a
4	HA-E2F1	chr7:55955060-55955796	Hela-S3	cervix:	n/a	chr7:55955607-55955619 chr7:55955122-55955131
5	POLR2A	chr7:55954883-55955693	GM19099	blood:	n/a	n/a
6	REST	chr7:55954413-55955646	H1-neurons	neurons:	n/a	chr7:55955623-55955632 chr7:55955623-55955636 chr7:55954895-55954904
7	POLR2A	chr7:55954877-55955807	GM12892	blood:	n/a	n/a
8	POLR2A	chr7:55955519-55955644	A549	lung:	n/a	n/a
9	E2F4	chr7:55955637-55955831	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr7:55954892-55955711	GM18505	blood:	n/a	n/a
11	POLR2A	chr7:55954888-55955760	GM19193	blood:	n/a	n/a
12	POLR2A	chr7:55954884-55955840	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr7:55955484-55955705	A549	lung:	n/a	n/a
14	POLR2A	chr7:55955540-55955753	Hela-S3	cervix:	n/a	n/a
15	CCNT2	chr7:55954906-55955752	K562	blood:	n/a	n/a
16	POLR2A	chr7:55954910-55955733	HepG2	liver:	n/a	n/a
17	MXI1	chr7:55955568-55956879	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr7:55954955-55955770	K562	blood:	n/a	n/a
19	POLR2A	chr7:55955463-55955655	A549	lung:	n/a	n/a
20	MYC	chr7:55955603-55955803	K562	blood:	n/a	n/a
21	BHLHE40	chr7:55955634-55955791	K562	blood:	n/a	n/a
22	POLR2A	chr7:55955417-55955680	GM12878	blood:	n/a	n/a
23	POLR2A	chr7:55955496-55955657	HepG2	liver:	n/a	n/a
24	POLR2A	chr7:55955505-55955686	A549	lung:	n/a	n/a
25	POLR2A	chr7:55954876-55955782	GM18951	blood:	n/a	n/a
26	POLR2A	chr7:55955480-55955726	GM12878	blood:	n/a	n/a
27	POLR2A	chr7:55955518-55955773	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr7:55954764-55955831	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr7:55955517-55955850	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr7:55954802-55955779	NB4	blood:	n/a	n/a
31	E2F6	chr7:55955528-55955713	K562	blood:	n/a	chr7:55955607-55955619

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:55955621-55955671	H1-hESC	embryonic stem cell:	embryo
2	chr7:55955621-55955671	CMK	blood:	n/a
3	chr7:55955621-55955671	HRPEpiC	eye:	n/a
4	chr7:55955621-55955671	AG04449	skin:	fetal
5	chr7:55955621-55955671	HepG2	liver:	n/a
6	chr7:55955621-55955671	PANC-1	pancreas:	n/a
7	chr7:55955621-55955671	MCF10A-Er-Src	breast:	n/a
8	chr7:55955621-55955671	ECC-1	luminal epithelium:	n/a
9	chr7:55955621-55955671	GM19239	blood:	n/a
10	chr7:55955621-55955671	A549	lung:	n/a
11	chr7:55955621-55955671	HIPEpiC	eye:	n/a
12	chr7:55955621-55955671	HRE	kidney:	n/a
13	chr7:55955621-55955671	GM06990	blood:	n/a
14	chr7:55955621-55955671	HRCEpiC	kidney:	n/a
15	chr7:55955621-55955671	NT2-D1	testis:	n/a
16	chr7:55955621-55955671	AoSMC	blood vessel:	n/a
17	chr7:55955621-55955671	AG04450	lung:	fetal
18	chr7:55955621-55955671	SK-N-SH_RA	brain:	n/a
19	chr7:55955621-55955671	Jurkat	blood:	n/a
20	chr7:55955621-55955671	ovcar-3	ovarian:	n/a
21	chr7:55955621-55955671	T-47D	breast:	n/a
22	chr7:55955621-55955671	HEK293	kidney:	embryo
23	chr7:55955621-55955671	Hepatocyte	liver:	n/a
24	chr7:55955621-55955671	SK-N-MC	brain:	n/a
25	chr7:55955621-55955671	SK-N-SH	brain:	n/a
26	chr7:55955621-55955671	AG09319	gingival:	n/a
27	chr7:55955621-55955671	HCM	heart:	n/a
28	chr7:55955621-55955671	NB4	blood:	n/a
29	chr7:55955621-55955671	K562	blood:	n/a
30	chr7:55955621-55955671	HCF	heart:	n/a
31	chr7:55955621-55955671	NH-A	brain:	n/a
32	chr7:55955621-55955671	IMR90	lung:	fetal
33	chr7:55955621-55955671	MCF-7	breast:	n/a
34	chr7:55955621-55955671	HCPEpiC	choroid plexus:	n/a
35	chr7:55955621-55955671	ProgFib	skin:	n/a
36	chr7:55955621-55955671	PrEC	prostate:	n/a
37	chr7:55955621-55955671	BJ	skin:	n/a
38	chr7:55955621-55955671	NHBE	bronchial:	n/a
39	chr7:55955621-55955671	GM12878	blood:	n/a
40	chr7:55955621-55955671	SKMC	muscle:	n/a
41	chr7:55955621-55955671	Hela-S3	cervix:	n/a
42	chr7:55955621-55955671	PFSK-1	brain:	n/a
43	chr7:55955621-55955671	BE2_C	brain:	n/a
44	chr7:55955621-55955671	AG09309	skin:	n/a
45	chr7:55955621-55955671	RPTEC	kidney:	n/a
46	chr7:55955621-55955671	HNPCEpiC	eye:	n/a
47	chr7:55955621-55955671	HUVEC	blood vessel:	n/a
48	chr7:55955621-55955671	U87	brain:	n/a
49	chr7:55955621-55955671	GM12892	blood:	n/a
50	chr7:55955621-55955671	HL-60	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:55954730..55957503-chr7:55957932..55960617,3	K562	blood:
2	chr7:55953245..55956784-chr7:55957115..55962697,6	MCF-7	breast:
3	chr12:120907018..120907867-chr7:55955416..55956004,2	NB4	blood:
4	chr1:28655179..28656099-chr7:55955155..55955693,2	NB4	blood:
5	chr7:55954730..55957550-chr7:55957932..55963672,5	K562	blood:

No data

Variant related genes	Relation type
RN7SL64P	TF binding region
RN7SL64P	CpG island
ENSG00000265676	Chromatin interaction
ENSG00000130772	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000088986	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11489729	0.85[ASN][1000 genomes]
rs17172505	1.00[AMR][1000 genomes]
rs56231305	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs57580348	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60007968	0.85[ASN][1000 genomes]
rs61193865	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73358466	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73358468	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73360334	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73360352	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73360362	0.85[ASN][1000 genomes]
rs73360364	0.85[ASN][1000 genomes]
rs73360369	0.85[ASN][1000 genomes]
rs73360377	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73698917	0.85[ASN][1000 genomes]
rs73698918	0.85[ASN][1000 genomes]
rs73698919	0.85[ASN][1000 genomes]
rs73698972	0.85[ASN][1000 genomes]
rs73698975	0.85[ASN][1000 genomes]
rs73698976	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv427782	chr7:55703073-56010314	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats 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	84 gene(s)	inside rSNPs	diseases
6	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
8	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
10	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
12	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
13	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
14	esv3395123	chr7:55954408-55956456	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
15	esv11131	chr7:55955156-55956461	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:55954400-55955800	Active TSS	Primary T cells from cord blood	blood
2	chr7:55954400-55955800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:55954400-55955800	Active TSS	Fetal Brain Female	brain
4	chr7:55954400-55956000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:55954400-55956000	Active TSS	Brain Anterior Caudate	brain
6	chr7:55954400-55956000	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr7:55954400-55956200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:55954400-55956200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:55954400-55956200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr7:55954400-55956200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr7:55954400-55956200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:55954400-55956200	Active TSS	Rectal Smooth Muscle	rectum
13	chr7:55954400-55956400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:55954400-55956400	Active TSS	A549	lung
15	chr7:55954400-55956600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:55954400-55956600	Active TSS	Brain Germinal Matrix	brain
17	chr7:55954600-55955800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:55954600-55955800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:55954600-55955800	Active TSS	Primary monocytes fromperipheralblood	blood
20	chr7:55954600-55955800	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr7:55954600-55955800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:55954600-55955800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:55954600-55955800	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr7:55954600-55955800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:55954600-55955800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:55954600-55955800	Active TSS	Adipose Nuclei	Adipose
27	chr7:55954600-55955800	Active TSS	Liver	Liver
28	chr7:55954600-55955800	Active TSS	Colonic Mucosa	Colon
29	chr7:55954600-55955800	Active TSS	Esophagus	oesophagus
30	chr7:55954600-55955800	Active TSS	Left Ventricle	heart
31	chr7:55954600-55955800	Active TSS	Lung	lung
32	chr7:55954600-55955800	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr7:55954600-55955800	Active TSS	Small Intestine	intestine
34	chr7:55954600-55956000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:55954600-55956000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:55954600-55956000	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr7:55954600-55956000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:55954600-55956000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr7:55954600-55956000	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr7:55954600-55956000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:55954600-55956000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:55954600-55956000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:55954600-55956000	Active TSS	Aorta	Aorta
44	chr7:55954600-55956000	Active TSS	Brain Cingulate Gyrus	brain
45	chr7:55954600-55956000	Active TSS	Brain Hippocampus Middle	brain
46	chr7:55954600-55956000	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr7:55954600-55956000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:55954600-55956000	Active TSS	Brain Substantia Nigra	brain
49	chr7:55954600-55956000	Active TSS	Colon Smooth Muscle	Colon
50	chr7:55954600-55956000	Active TSS	Fetal Intestine Large	intestine

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