Variant report

Variant	rs4440007
Chromosome Location	chr2:97172610-97172611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr2:97172184-97172810	ECC-1	luminal epithelium:	n/a	n/a
2	TEAD4	chr2:97172187-97172752	ECC-1	luminal epithelium:	n/a	n/a
3	NFIC	chr2:97172191-97172813	ECC-1	luminal epithelium:	n/a	n/a
4	ESR1	chr2:97172216-97172634	ECC-1	luminal epithelium:	n/a	n/a
5	EP300	chr2:97172048-97172969	ECC-1	luminal epithelium:	n/a	n/a
6	ESR1	chr2:97172396-97172637	ECC-1	luminal epithelium:	n/a	n/a
7	TEAD4	chr2:97172181-97172748	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:57070885..57073052-chr2:97171021..97172716,2	MCF-7	breast:
2	chr2:97170365..97172764-chr2:97201540..97203996,4	MCF-7	breast:
3	chr2:97167695..97169619-chr2:97172123..97173788,2	K562	blood:
4	chr2:96970601..96972831-chr2:97171106..97172664,2	MCF-7	breast:
5	chr2:97171095..97173244-chr2:97174702..97177728,3	MCF-7	breast:

No data

Variant related genes	Relation type
NEURL3	TF binding region
ENSG00000196843	Chromatin interaction
ENSG00000149115	Chromatin interaction
ENSG00000144028	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10207855	1.00[EUR][1000 genomes]
rs1108786	1.00[EUR][1000 genomes]
rs11890388	1.00[EUR][1000 genomes]
rs13386976	1.00[EUR][1000 genomes]
rs17119533	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2312956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35069910	1.00[EUR][1000 genomes]
rs3806559	1.00[EUR][1000 genomes]
rs56246244	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57537489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57754441	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58225390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59503513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6576982	1.00[EUR][1000 genomes]
rs6729813	1.00[EUR][1000 genomes]
rs72939347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72939352	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72939374	1.00[EUR][1000 genomes]
rs72939397	1.00[EUR][1000 genomes]
rs72941206	1.00[EUR][1000 genomes]
rs72941231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73959007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7575530	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
10	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97167400-97173600	Enhancers	Liver	Liver
2	chr2:97167600-97173600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:97167600-97173600	Enhancers	Fetal Intestine Large	intestine
4	chr2:97167800-97175400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:97168000-97173000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:97168000-97173400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:97168000-97173600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:97168000-97173600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:97168000-97173600	Weak transcription	Right Atrium	heart
10	chr2:97168200-97173400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:97168200-97173600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:97168200-97173600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:97168200-97173600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:97168400-97173400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:97168400-97173400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:97168400-97173600	Weak transcription	Primary T cells from cord blood	blood
17	chr2:97168400-97173600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:97168400-97173600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:97168400-97173600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:97168400-97173600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:97168400-97173600	Weak transcription	Esophagus	oesophagus
22	chr2:97168400-97173800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:97168600-97173600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:97168800-97173600	Weak transcription	Fetal Lung	lung
25	chr2:97169000-97173600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:97169200-97173600	Weak transcription	Right Ventricle	heart
27	chr2:97169400-97173600	Weak transcription	Ovary	ovary
28	chr2:97169600-97173400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr2:97169600-97173400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:97169600-97173400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:97170800-97173600	Enhancers	Fetal Kidney	kidney
32	chr2:97171000-97173000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr2:97171000-97173600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:97171200-97172800	Enhancers	Pancreas	Pancrea
35	chr2:97171200-97173600	Weak transcription	HUVEC	blood vessel
36	chr2:97171200-97175800	Enhancers	Placenta	Placenta
37	chr2:97171400-97173600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:97171400-97173600	Weak transcription	Gastric	stomach
39	chr2:97171400-97173600	Weak transcription	Spleen	Spleen
40	chr2:97171600-97172800	Enhancers	HepG2	liver
41	chr2:97171600-97173400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr2:97171600-97173400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:97171600-97173400	Weak transcription	Osteobl	bone
44	chr2:97171600-97173600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:97171600-97173600	Weak transcription	Fetal Muscle Leg	muscle
46	chr2:97171600-97173600	Weak transcription	Left Ventricle	heart
47	chr2:97171600-97173600	Weak transcription	Psoas Muscle	Psoas
48	chr2:97171600-97173600	Weak transcription	HMEC	breast
49	chr2:97171600-97173600	Weak transcription	HSMMtube	muscle
50	chr2:97171600-97173600	Weak transcription	NH-A	brain

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