Variant report

Variant	rs7996702
Chromosome Location	chr13:111108874-111108875
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:111107610..111109499-chr13:111162077..111163995,2	K562	blood:
2	chr13:111104435..111110355-chr13:111364229..111367898,5	MCF-7	breast:
3	chr13:111107958..111109838-chr2:11209436..11210956,2	MCF-7	breast:
4	chr13:111108605..111110640-chr13:111363694..111365787,2	MCF-7	breast:
5	chr13:111106451..111110358-chr13:111364193..111366968,4	K562	blood:
6	chr13:111107847..111110592-chr13:111111239..111113236,3	MCF-7	breast:
7	chr13:111106850..111109675-chr13:111241801..111244096,2	MCF-7	breast:
8	chr13:111106557..111109185-chr13:111212224..111215375,3	MCF-7	breast:
9	chr13:111107216..111109712-chr13:111113064..111115037,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL4A2-AS2-1	chr13:111108743-111109703	ENSG00000224821.5

No data

Variant related genes	Relation type
ENSG00000139832	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000134871	Chromatin interaction
ENSG00000134905	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1927350	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1927351	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1927353	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1983931	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1983932	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28502737	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3803232	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3803234	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3803235	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3803236	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3803238	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4417423	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6492278	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7139426	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7318014	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7319009	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7321468	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7323041	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7325055	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7325334	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7326779	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7334909	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7336609	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7339193	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7990214	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7990383	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7992707	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7995158	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7996257	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7996349	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9515216	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9515218	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9515219	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9515221	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9515222	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9515223	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9515224	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9515227	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9515229	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9515231	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9521781	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9521782	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9521784	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9521785	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9521786	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9521787	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9521789	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9521790	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9521792	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9521794	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9555704	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9559807	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9559809	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9559810	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9559811	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9559814	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv901008	chr13:111089573-111126501	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv430604	chr13:111095999-111156999	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv832720	chr13:111100235-111295993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv1039297	chr13:111101507-111138863	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv541923	chr13:111101507-111138863	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3335695	chr13:111108651-111110599	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111078200-111136800	Weak transcription	Colonic Mucosa	Colon
2	chr13:111083600-111110000	Weak transcription	Esophagus	oesophagus
3	chr13:111097000-111109000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:111099000-111123400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr13:111099800-111116400	Strong transcription	Fetal Muscle Leg	muscle
6	chr13:111100000-111120000	Weak transcription	Pancreas	Pancrea
7	chr13:111100400-111118200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr13:111101600-111130200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:111101800-111127800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr13:111102200-111122000	Strong transcription	Placenta	Placenta
11	chr13:111103600-111112000	Weak transcription	HSMMtube	muscle
12	chr13:111103800-111125600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:111104200-111111600	Weak transcription	Fetal Lung	lung
14	chr13:111104400-111111400	Weak transcription	HSMM	muscle
15	chr13:111105800-111138000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:111106200-111110400	Strong transcription	Adipose Nuclei	Adipose
17	chr13:111106400-111115200	Weak transcription	Fetal Kidney	kidney
18	chr13:111106600-111111800	Strong transcription	Aorta	Aorta
19	chr13:111106600-111112400	Strong transcription	NHLF	lung
20	chr13:111106800-111110600	Strong transcription	Lung	lung
21	chr13:111107000-111109800	Weak transcription	Left Ventricle	heart
22	chr13:111107000-111111600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr13:111107400-111110200	Weak transcription	HUVEC	blood vessel
24	chr13:111107400-111114600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr13:111107600-111109800	Weak transcription	Spleen	Spleen
26	chr13:111107600-111118000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:111107600-111130400	Weak transcription	Right Atrium	heart
28	chr13:111108000-111109800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr13:111108200-111109600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr13:111108200-111109800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr13:111108200-111110000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:111108200-111129200	Strong transcription	Right Ventricle	heart
33	chr13:111108200-111138400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr13:111108400-111109000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr13:111108400-111109600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr13:111108400-111109800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr13:111108400-111109800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr13:111108400-111109800	Weak transcription	Osteobl	bone
39	chr13:111108400-111110000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr13:111108400-111110400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr13:111108400-111110800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr13:111108400-111113800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:111108400-111126800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr13:111108600-111109000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr13:111108600-111109000	Enhancers	Colon Smooth Muscle	Colon
46	chr13:111108600-111109800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr13:111108600-111109800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr13:111108600-111109800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr13:111108600-111110000	Weak transcription	HMEC	breast
50	chr13:111108600-111114600	Weak transcription	Gastric	stomach

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