Variant report

Variant	rs73603342
Chromosome Location	chr10:4692949-4692950
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:4692940-4693090	HFF	foreskin:	n/a	n/a
2	CTCF	chr10:4692891-4693169	GM12878	blood:	n/a	n/a
3	CTCF	chr10:4692920-4693070	NHDF-neo	bronchial:	n/a	n/a
4	CTCF	chr10:4692932-4692960	MCF-7	breast:	n/a	n/a
5	RAD21	chr10:4692884-4693170	SK-N-SH_RA	brain:	n/a	chr10:4692999-4693008
6	FOXP2	chr10:4692786-4693120	PFSK-1	brain:	n/a	n/a
7	GATA3	chr10:4692456-4693234	T-47D	breast:	n/a	n/a
8	CTCF	chr10:4692862-4693154	IMR90	lung:	n/a	n/a
9	FOXA1	chr10:4692784-4693171	T-47D	breast:	n/a	n/a
10	CTCF	chr10:4692920-4693070	HEEpiC	esophagus:	n/a	n/a
11	CTCF	chr10:4692888-4693141	MCF-7	breast:	n/a	n/a
12	CTCF	chr10:4692920-4693070	AG04449	skin:	n/a	n/a
13	KAP1	chr10:4692129-4693343	HEK293	kidney:	n/a	n/a
14	FOXA1	chr10:4692845-4693214	T-47D	breast:	n/a	n/a
15	RAD21	chr10:4692758-4693139	MCF-7	breast:	n/a	chr10:4692999-4693008
16	RAD21	chr10:4692873-4693245	SK-N-SH_RA	brain:	n/a	chr10:4692999-4693008
17	CTCF	chr10:4692880-4693030	WI-38	lung:	n/a	n/a
18	CTCF	chr10:4692920-4693070	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr10:4692910-4693131	Fibrobl	skin:	n/a	n/a
20	CTCF	chr10:4692900-4693050	AG09319	gingival:	n/a	n/a
21	CTCF	chr10:4692940-4693090	SAEC	small airway:	n/a	n/a
22	CTCF	chr10:4692860-4693010	HFF-Myc	foreskin:	n/a	n/a
23	CTCF	chr10:4692940-4693090	AG09309	skin:	n/a	n/a
24	GATA3	chr10:4692535-4693107	T-47D	breast:	n/a	n/a
25	CTCF	chr10:4692880-4693030	NHDF-neo	bronchial:	n/a	n/a
26	CTCF	chr10:4692918-4693032	MCF-7	breast:	n/a	n/a
27	GATA2	chr10:4692699-4693143	SH-SY5Y	brain:	n/a	n/a
28	CTCF	chr10:4692920-4693070	AG10803	skin:	n/a	n/a
29	MYC	chr10:4692872-4693138	MCF-7	breast:	n/a	chr10:4692976-4692985
30	CTCF	chr10:4692900-4693050	MCF-7	breast:	n/a	n/a
31	CTCF	chr10:4692940-4693090	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr10:4692840-4692990	HBMEC	blood vessel:	n/a	n/a
33	CTCF	chr10:4692892-4693102	ProgFib	skin:	n/a	n/a
34	POLR2A	chr10:4692718-4692970	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr10:4692926-4693056	NHEK	skin:	n/a	n/a
36	CTCF	chr10:4692921-4692996	A549	lung:	n/a	n/a
37	CTCF	chr10:4692880-4693030	SAEC	small airway:	n/a	n/a
38	CTCF	chr10:4692909-4693134	MCF-7	breast:	n/a	n/a
39	CTCF	chr10:4692900-4693050	BJ	skin:	n/a	n/a
40	CTCF	chr10:4692920-4693070	HPF	lung:	n/a	n/a
41	CEBPB	chr10:4692790-4693214	IMR90	lung:	n/a	n/a
42	CTCF	chr10:4692851-4693007	MCF-7	breast:	n/a	n/a
43	STAT3	chr10:4692865-4692983	MCF10A-Er-Src	breast:	n/a	n/a
44	CTCF	chr10:4692920-4693070	AG04450	lung:	n/a	n/a
45	MYC	chr10:4692946-4693015	MCF-7	breast:	n/a	chr10:4692976-4692985
46	CTCF	chr10:4692940-4693090	BJ	skin:	n/a	n/a
47	RAD21	chr10:4692447-4693269	IMR90	lung:	n/a	chr10:4692999-4693008

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:4691020..4693765-chr10:4695253..4697070,2	K562	blood:
2	chr10:4692495..4696289-chr10:4704356..4708036,4	MCF-7	breast:
3	chr10:4691378..4694078-chr10:4702195..4704638,2	MCF-7	breast:
4	chr10:4683804..4685343-chr10:4691589..4693258,2	MCF-7	breast:
5	chr10:4586883..4588795-chr10:4691830..4693502,2	MCF-7	breast:
6	chr10:3805083..3807904-chr10:4690931..4693769,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKR1C2-4	chr10:4692378-4693395	XLOC_008703
2	lnc-AKR1C2-4	chr10:4692148-4693395	NONHSAT011101
3	lnc-AKR1C2-4	chr10:4692377-4693395	ENSG00000231298.2
4	lnc-AKR1C2-4	chr10:4692377-4693395	NONHSAT011106

No data

Variant related genes	Relation type
LINC00705	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs13376758	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894787	chr10:4385379-4857717	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv1798456	chr10:4689138-4731081	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1817443	chr10:4689138-4731081	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1831014	chr10:4689138-4731081	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1838419	chr10:4689138-4731081	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1805926	chr10:4689842-4720626	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv1809203	chr10:4689842-4720626	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1840346	chr10:4689842-4720626	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv1842933	chr10:4689842-4720626	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1848476	chr10:4689842-4720626	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4680600-4694200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr10:4680600-4703800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:4682800-4693800	Weak transcription	NHEK	skin
4	chr10:4682800-4694000	Weak transcription	HMEC	breast
5	chr10:4688800-4694800	Enhancers	Dnd41	blood
6	chr10:4689400-4694800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr10:4690000-4697200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr10:4691000-4693200	Enhancers	Stomach Smooth Muscle	stomach
9	chr10:4691600-4694600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:4691800-4693400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr10:4692000-4693000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:4692000-4693000	Enhancers	Rectal Smooth Muscle	rectum
13	chr10:4692000-4693200	Enhancers	Fetal Brain Male	brain
14	chr10:4692000-4693200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr10:4692200-4693000	Enhancers	Fetal Stomach	stomach
16	chr10:4692200-4693000	Enhancers	Stomach Mucosa	stomach
17	chr10:4692200-4693000	Flanking Active TSS	Osteobl	bone
18	chr10:4692200-4693200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:4692200-4693200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:4692200-4693200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr10:4692200-4693400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:4692200-4694800	Enhancers	NHDF-Ad	bronchial
23	chr10:4692200-4694800	Enhancers	NHLF	lung
24	chr10:4692400-4693000	Enhancers	A549	lung
25	chr10:4692400-4693200	Enhancers	Adipose Nuclei	Adipose
26	chr10:4692400-4693200	Enhancers	NH-A	brain
27	chr10:4692400-4694400	Genic enhancers	HUVEC	blood vessel
28	chr10:4692400-4694800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr10:4692600-4693000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr10:4692600-4693000	Enhancers	Fetal Kidney	kidney
31	chr10:4692600-4693000	Enhancers	Fetal Muscle Trunk	muscle
32	chr10:4692600-4693000	Enhancers	Right Atrium	heart
33	chr10:4692600-4693200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr10:4692600-4693200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr10:4692600-4693200	Enhancers	Fetal Muscle Leg	muscle
36	chr10:4692600-4693200	Enhancers	Left Ventricle	heart
37	chr10:4692600-4693200	Enhancers	Right Ventricle	heart
38	chr10:4692600-4693200	Enhancers	HSMM	muscle
39	chr10:4692600-4695600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr10:4692800-4693000	Enhancers	Aorta	Aorta
41	chr10:4692800-4693000	Enhancers	Gastric	stomach
42	chr10:4692800-4693200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:4692800-4693200	Enhancers	Esophagus	oesophagus
44	chr10:4692800-4693200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr10:4692800-4693200	Enhancers	Lung	lung
46	chr10:4692800-4693200	Enhancers	Ovary	ovary
47	chr10:4692800-4693200	Enhancers	Pancreas	Pancrea
48	chr10:4692800-4693200	Enhancers	Psoas Muscle	Psoas
49	chr10:4692800-4693200	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr10:4692800-4693400	Enhancers	Fetal Lung	lung

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