Variant report

Variant	rs45612733
Chromosome Location	chr7:87105463-87105464
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:87103862-87105708	GM19193	blood:	n/a	n/a
2	POLR2A	chr7:87103555-87106431	GM12878	blood:	n/a	n/a
3	PML	chr7:87103192-87105843	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:87103807-87105531	GM18951	blood:	n/a	n/a
5	YY1	chr7:87105218-87105507	GM12878	blood:	n/a	n/a
6	STAT1	chr7:87105393-87105473	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:87103795-87105734	GM15510	blood:	n/a	n/a
8	POLR2A	chr7:87103275-87105942	GM12878	blood:	n/a	n/a
9	ZNF143	chr7:87105364-87105564	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:87105045-87105659	GM12891	blood:	n/a	n/a
11	POLR2A	chr7:87103428-87105708	GM19099	blood:	n/a	n/a
12	POLR2A	chr7:87104578-87105485	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:87103327-87105628	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:87105406-87105482	MCF-7	breast:	n/a	n/a
15	POLR2A	chr7:87103626-87105732	GM12892	blood:	n/a	n/a
16	POLR2A	chr7:87105040-87105807	GM12891	blood:	n/a	n/a
17	ELF1	chr7:87104493-87105787	GM12878	blood:	n/a	chr7:87104850-87104862
18	POLR2A	chr7:87103683-87105573	GM12892	blood:	n/a	n/a
19	MAX	chr7:87104693-87105505	GM12878	blood:	n/a	chr7:87104897-87104906
20	MAX	chr7:87104052-87105552	HepG2	liver:	n/a	chr7:87104897-87104906
21	MAX	chr7:87104539-87105520	HepG2	liver:	n/a	chr7:87104897-87104906
22	POLR2A	chr7:87103429-87106200	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:87105416-87105466	ovcar-3	ovarian:	n/a
2	chr7:87105416-87105466	K562	blood:	n/a
3	chr7:87105416-87105466	PFSK-1	brain:	n/a
4	chr7:87105416-87105466	CMK	blood:	n/a
5	chr7:87105416-87105466	AG09309	skin:	n/a
6	chr7:87105416-87105466	HMEC	breast:	n/a
7	chr7:87105416-87105466	H1-hESC	embryonic stem cell:	embryo
8	chr7:87105416-87105466	HPAEpiC	pulmonary alveolar:	n/a
9	chr7:87105416-87105466	Caco-2	colon:	n/a
10	chr7:87105416-87105466	HNPCEpiC	eye:	n/a
11	chr7:87105416-87105466	HRE	kidney:	n/a
12	chr7:87105416-87105466	HL-60	blood:	n/a
13	chr7:87105416-87105466	Hepatocyte	liver:	n/a
14	chr7:87105416-87105466	MCF-7	breast:	n/a
15	chr7:87105416-87105466	GM06990	blood:	n/a
16	chr7:87105416-87105466	SK-N-SH	brain:	n/a
17	chr7:87105416-87105466	HAEpiC	amniotic membrane:	n/a
18	chr7:87105416-87105466	NB4	blood:	n/a
19	chr7:87105416-87105466	Hela-S3	cervix:	n/a
20	chr7:87105416-87105466	BJ	skin:	n/a
21	chr7:87105416-87105466	A549	lung:	n/a
22	chr7:87105416-87105466	GM12891	blood:	n/a
23	chr7:87105416-87105466	HCPEpiC	choroid plexus:	n/a
24	chr7:87105416-87105466	AG09319	gingival:	n/a
25	chr7:87105416-87105466	AG04450	lung:	fetal
26	chr7:87105416-87105466	HepG2	liver:	n/a
27	chr7:87105416-87105466	HEK293	kidney:	embryo
28	chr7:87105416-87105466	ProgFib	skin:	n/a
29	chr7:87105416-87105466	HRPEpiC	eye:	n/a
30	chr7:87105416-87105466	GM12878	blood:	n/a
31	chr7:87105416-87105466	SAEC	small airway:	n/a
32	chr7:87105416-87105466	AoSMC	blood vessel:	n/a
33	chr7:87105416-87105466	AG10803	skin:	n/a
34	chr7:87105416-87105466	GM19239	blood:	n/a
35	chr7:87105416-87105466	SK-N-SH_RA	brain:	n/a
36	chr7:87105416-87105466	PANC-1	pancreas:	n/a
37	chr7:87105416-87105466	MCF10A-Er-Src	breast:	n/a
38	chr7:87105416-87105466	U87	brain:	n/a
39	chr7:87105416-87105466	BE2_C	brain:	n/a
40	chr7:87105416-87105466	SK-N-MC	brain:	n/a
41	chr7:87105416-87105466	NHDF-neo	bronchial:	n/a
42	chr7:87105416-87105466	NH-A	brain:	n/a
43	chr7:87105416-87105466	PrEC	prostate:	n/a
44	chr7:87105416-87105466	GM12892	blood:	n/a
45	chr7:87105416-87105466	T-47D	breast:	n/a
46	chr7:87105416-87105466	ECC-1	luminal epithelium:	n/a
47	chr7:87105416-87105466	RPTEC	kidney:	n/a
48	chr7:87105416-87105466	AG04449	skin:	fetal
49	chr7:87105416-87105466	NHBE	bronchial:	n/a
50	chr7:87105416-87105466	NT2-D1	testis:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CROT-1	chr7:87105081-87107196	NONHSAT121834

No data

Variant related genes	Relation type
ABCB4	TF binding region
ABCB4	CpG island

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs45531135	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	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv1029486	chr7:86856387-87121976	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv539004	chr7:86856387-87121976	Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1828294	chr7:86857553-87147397	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv1024376	chr7:86905796-87129346	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv1026153	chr7:86905796-87258822	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	esv3382480	chr7:87031452-87133648	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv464623	chr7:87040629-87139316	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv607726	chr7:87040629-87139316	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	esv1792643	chr7:87069758-87108420	Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv888684	chr7:87074964-87105795	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
18	nsv888689	chr7:87093247-87110017	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv888690	chr7:87093247-87122847	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	esv3346922	chr7:87103841-87106389	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87103600-87105600	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr7:87103600-87105800	Active TSS	Rectal Smooth Muscle	rectum
3	chr7:87103800-87105600	Active TSS	Left Ventricle	heart
4	chr7:87104000-87105600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:87104000-87105600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr7:87104000-87105600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:87104000-87105600	Enhancers	Placenta	Placenta
8	chr7:87104200-87105800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr7:87104200-87105800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr7:87104400-87105600	Active TSS	Fetal Brain Female	brain
11	chr7:87104400-87105800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr7:87104400-87105800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr7:87104400-87105800	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr7:87104600-87105600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:87104600-87105600	Active TSS	Colon Smooth Muscle	Colon
16	chr7:87104600-87105600	Enhancers	Lung	lung
17	chr7:87104600-87105800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr7:87104600-87105800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr7:87104800-87105600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:87104800-87105600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr7:87104800-87105600	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
22	chr7:87104800-87105600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
23	chr7:87104800-87105600	Active TSS	Brain Anterior Caudate	brain
24	chr7:87104800-87105600	Bivalent/Poised TSS	Colonic Mucosa	Colon
25	chr7:87104800-87105800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr7:87104800-87105800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr7:87104800-87108000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:87105200-87105600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:87105200-87105600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:87105200-87105600	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr7:87105200-87105600	Flanking Active TSS	Liver	Liver
32	chr7:87105200-87105600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr7:87105200-87105600	Flanking Active TSS	Right Atrium	heart
34	chr7:87105200-87105600	Flanking Active TSS	GM12878-XiMat	blood
35	chr7:87105200-87105600	Flanking Active TSS	HepG2	liver
36	chr7:87105200-87105600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
37	chr7:87105200-87105800	Enhancers	Spleen	Spleen
38	chr7:87105400-87105600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:87105400-87105600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:87105400-87105600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:87105400-87105600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:87105400-87105600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
43	chr7:87105400-87105600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
44	chr7:87105400-87105600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
45	chr7:87105400-87105600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:87105400-87105600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
47	chr7:87105400-87105600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:87105400-87105600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:87105400-87105600	Flanking Active TSS	Aorta	Aorta
50	chr7:87105400-87105600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain

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