Variant report

Variant	rs6746421
Chromosome Location	chr2:97484277-97484278
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr2:97481138-97486512	HEK293-T-REx	kidney:	n/a	chr2:97486292-97486301 chr2:97484433-97484454
2	POLR2A	chr2:97484246-97484378	MCF10A-Er-Src	breast:	n/a	n/a
3	NFIC	chr2:97484228-97484680	HepG2	liver:	n/a	n/a
4	ZNF263	chr2:97484195-97485254	K562	blood:	n/a	chr2:97484433-97484454
5	MBD4	chr2:97484241-97485944	HepG2	liver:	n/a	n/a
6	MYBL2	chr2:97484262-97485583	HepG2	liver:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97302043..97304772-chr2:97480834..97485283,4	K562	blood:
2	chr2:97481636..97484312-chr2:97528160..97530681,3	MCF-7	breast:
3	chr2:97482890..97484803-chr2:97649558..97651545,2	MCF-7	breast:
4	chr2:97481648..97486150-chr2:97531417..97538119,10	MCF-7	breast:
5	chr2:97303859..97305572-chr2:97481972..97484956,2	K562	blood:
6	chr2:97483756..97486105-chr2:97524140..97526668,2	K562	blood:
7	chr2:97484195..97486441-chr2:97527704..97530439,2	K562	blood:
8	chr2:97424794..97426969-chr2:97483336..97486103,2	MCF-7	breast:
9	chr2:97482077..97484941-chr2:97522185..97524472,2	MCF-7	breast:
10	chr2:97302401..97304754-chr2:97481583..97484330,2	MCF-7	breast:
11	chr2:97425678..97429518-chr2:97479689..97484495,7	MCF-7	breast:
12	chr2:97481330..97485256-chr2:97521136..97525640,5	K562	blood:
13	chr2:97483777..97486201-chr2:97534208..97536891,3	K562	blood:
14	chr2:97482924..97486110-chr2:97522270..97524804,3	MCF-7	breast:
15	chr2:97480844..97484629-chr2:97532869..97536982,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273265	TF binding region
ENSG00000163126	Chromatin interaction
ENSG00000114982	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000213337	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1047634	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11886360	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11892821	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2314649	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34013660	1.00[EUR][1000 genomes]
rs56129857	1.00[EUR][1000 genomes]
rs58448521	1.00[EUR][1000 genomes]
rs6576977	1.00[EUR][1000 genomes]
rs6576985	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6576988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6576991	1.00[EUR][1000 genomes]
rs6707008	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6713046	1.00[EUR][1000 genomes]
rs6733826	1.00[EUR][1000 genomes]
rs6744498	1.00[EUR][1000 genomes]
rs6748214	1.00[EUR][1000 genomes]
rs6748234	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6759613	1.00[EUR][1000 genomes]
rs72945119	1.00[EUR][1000 genomes]
rs73960684	1.00[EUR][1000 genomes]
rs7565577	0.82[AFR][1000 genomes]
rs7569178	1.00[EUR][1000 genomes]
rs7570831	1.00[EUR][1000 genomes]
rs7580104	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7581456	0.82[AFR][1000 genomes]
rs7587149	1.00[EUR][1000 genomes]
rs7589082	0.80[AFR][1000 genomes]
rs7593340	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	nsv1009720	chr2:97464803-97522856	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv535830	chr2:97464803-97522856	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	esv3419974	chr2:97480425-97484723	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	esv3522461	chr2:97480625-97484323	Flanking Active TSS Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	esv3522462	chr2:97481225-97484298	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	esv3522464	chr2:97481225-97484298	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97482800-97484400	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr2:97482800-97484600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
3	chr2:97482800-97485200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:97482800-97485400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:97483000-97484400	Flanking Active TSS	Fetal Intestine Large	intestine
6	chr2:97483000-97484400	Flanking Active TSS	Fetal Thymus	thymus
7	chr2:97483000-97484800	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr2:97483000-97485200	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
9	chr2:97483000-97485800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
10	chr2:97483000-97486600	Transcr. at gene 5' and 3'	Dnd41	blood
11	chr2:97483000-97487600	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr2:97483000-97490800	Enhancers	Fetal Heart	heart
13	chr2:97483200-97484600	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
14	chr2:97483200-97485600	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr2:97483400-97484400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:97483400-97484400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:97483400-97484400	Enhancers	Esophagus	oesophagus
18	chr2:97483400-97484600	Enhancers	Spleen	Spleen
19	chr2:97483400-97484800	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:97483400-97485000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:97483400-97485000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr2:97483400-97485200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:97483400-97486200	Enhancers	Gastric	stomach
24	chr2:97483400-97487000	Enhancers	Left Ventricle	heart
25	chr2:97483600-97484400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:97483600-97484400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:97483600-97484400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:97483600-97484400	Genic enhancers	Brain Substantia Nigra	brain
29	chr2:97483600-97484400	Weak transcription	Small Intestine	intestine
30	chr2:97483600-97484600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:97483600-97484600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:97483600-97484600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr2:97483600-97485000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:97483600-97485200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr2:97483600-97485200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:97483600-97485200	Genic enhancers	Fetal Muscle Trunk	muscle
37	chr2:97483600-97485400	Enhancers	Adipose Nuclei	Adipose
38	chr2:97483600-97486400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:97483600-97488600	Weak transcription	Aorta	Aorta
40	chr2:97483600-97490000	Weak transcription	NH-A	brain
41	chr2:97483600-97492200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:97483600-97493400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:97483600-97493400	Weak transcription	HSMMtube	muscle
44	chr2:97483600-97498200	Weak transcription	HSMM	muscle
45	chr2:97483800-97484400	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr2:97483800-97484400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr2:97483800-97484400	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr2:97483800-97484400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:97483800-97484400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr2:97483800-97484400	Enhancers	Primary T helper cells PMA-I stimulated	--

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