Variant report

Variant	rs4693154
Chromosome Location	chr4:87843261-87843262
allele	C/T
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:87843259..87843829-chr4:88156202..88157194,2	MCF-7	breast:
2	chr4:87842227..87846817-chr4:87925967..87929277,6	MCF-7	breast:
3	chr4:87842431..87844252-chr4:87926551..87928246,2	MCF-7	breast:
4	chr4:87842585..87845353-chr4:87979775..87981630,2	K562	blood:
5	chr4:87843214..87843994-chr4:88014244..88015104,4	MCF-7	breast:
6	chr4:87842485..87845250-chr4:87926450..87930883,7	K562	blood:
7	chr4:87841127..87845186-chr4:87926504..87931446,8	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC10A6-2	chr4:87843242-87844887	NONHSAT097289

No data

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10011798	0.90[JPT][hapmap]
rs10015121	0.90[JPT][hapmap]
rs10015639	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs10050311	0.93[CEU][hapmap]
rs1010902	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1010903	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10516785	0.85[CHB][hapmap]
rs10516786	0.93[CEU][hapmap];0.85[CHB][hapmap];0.93[EUR][1000 genomes]
rs11097124	0.86[EUR][1000 genomes]
rs1447994	0.81[EUR][1000 genomes]
rs17012170	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17012200	0.93[CEU][hapmap];0.85[CHB][hapmap];0.95[EUR][1000 genomes]
rs17012213	0.95[EUR][1000 genomes]
rs17012216	0.95[EUR][1000 genomes]
rs17694112	0.87[CEU][hapmap]
rs17751427	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17751557	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1985944	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2053771	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2121871	0.89[JPT][hapmap]
rs2287147	0.87[CEU][hapmap]
rs4693153	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4693795	0.94[CEU][hapmap];0.90[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55698195	0.90[EUR][1000 genomes]
rs55831707	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55851914	0.95[EUR][1000 genomes]
rs56201068	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61651372	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6531941	0.93[CEU][hapmap];0.93[EUR][1000 genomes]
rs6846822	0.89[JPT][hapmap]
rs72667703	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72667705	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72667716	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72667721	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667724	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667727	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72667735	0.95[EUR][1000 genomes]
rs72667736	0.95[EUR][1000 genomes]
rs72667737	0.95[EUR][1000 genomes]
rs72667739	0.95[EUR][1000 genomes]
rs72667741	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv980228	chr4:87834452-87845024	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87825600-87846000	Weak transcription	Gastric	stomach
2	chr4:87825600-87849400	Weak transcription	Lung	lung
3	chr4:87825600-87849400	Weak transcription	Spleen	Spleen
4	chr4:87825800-87843600	Weak transcription	Brain Anterior Caudate	brain
5	chr4:87825800-87854800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:87825800-87854800	Weak transcription	Right Ventricle	heart
7	chr4:87825800-87855200	Weak transcription	Fetal Stomach	stomach
8	chr4:87826000-87852400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:87826200-87843400	Weak transcription	Brain Substantia Nigra	brain
10	chr4:87829800-87855000	Weak transcription	Aorta	Aorta
11	chr4:87830200-87849600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr4:87830200-87855200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:87830400-87847600	Weak transcription	Thymus	Thymus
14	chr4:87830400-87847800	Weak transcription	Psoas Muscle	Psoas
15	chr4:87830400-87849400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:87830400-87854600	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:87830600-87843400	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:87830600-87843400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:87830600-87845600	Weak transcription	Left Ventricle	heart
20	chr4:87831000-87855000	Weak transcription	Fetal Lung	lung
21	chr4:87831400-87854400	Weak transcription	Fetal Heart	heart
22	chr4:87831400-87854800	Weak transcription	Right Atrium	heart
23	chr4:87832200-87854800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr4:87835200-87849000	Weak transcription	Pancreas	Pancrea
25	chr4:87837200-87854400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr4:87838400-87843800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:87838400-87855000	Weak transcription	Colonic Mucosa	Colon
28	chr4:87838600-87844000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr4:87838800-87844000	Enhancers	NHDF-Ad	bronchial
30	chr4:87839000-87850200	Enhancers	Placenta	Placenta
31	chr4:87839600-87843800	Weak transcription	Fetal Intestine Small	intestine
32	chr4:87839600-87844000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:87839600-87844000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr4:87839600-87844200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr4:87839600-87847600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:87840000-87844000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:87840000-87844000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr4:87840200-87843400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr4:87840200-87852200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:87840200-87854800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:87840400-87843400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr4:87840400-87845800	Weak transcription	NHLF	lung
43	chr4:87840400-87847800	Weak transcription	HSMMtube	muscle
44	chr4:87840400-87849000	Weak transcription	GM12878-XiMat	blood
45	chr4:87841000-87844000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:87841000-87844000	Enhancers	HMEC	breast
47	chr4:87841000-87846000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:87841200-87845800	Weak transcription	NH-A	brain
49	chr4:87841400-87843600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:87841400-87846000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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