Variant report

Variant	rs16841116
Chromosome Location	chr4:7767755-7767756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7760394..7761920-chr4:7766669..7769385,2	K562	blood:
2	chr4:7767721..7770258-chr4:7770613..7772876,3	K562	blood:
3	chr4:7765704..7768382-chr4:7782855..7784797,2	K562	blood:
4	chr4:7762684..7766410-chr4:7766886..7769453,3	MCF-7	breast:
5	chr4:7762573..7764644-chr4:7765812..7768936,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10000569	0.83[ASN][1000 genomes]
rs10001508	1.00[CHB][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap]
rs10004558	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10022249	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10025396	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10031989	0.93[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10050114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10155361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10937858	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10937860	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10937862	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11944501	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501412	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12503512	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511825	1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs16841207	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28406288	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28429656	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28726367	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28735524	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28759100	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689858	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689861	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4689873	1.00[JPT][hapmap]
rs6856818	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73206599	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73208810	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7356232	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757242	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs886372	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1007319	chr4:7705550-7832097	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv537018	chr4:7705550-7832097	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv878575	chr4:7715181-7767755	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv878577	chr4:7757650-7771201	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7746200-7772000	Weak transcription	Brain Anterior Caudate	brain
2	chr4:7755400-7768400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:7756400-7767800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:7756600-7768000	Weak transcription	Brain Angular Gyrus	brain
5	chr4:7757000-7772000	Strong transcription	Brain Germinal Matrix	brain
6	chr4:7757600-7770800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:7757600-7779600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:7757800-7768200	Weak transcription	Fetal Heart	heart
9	chr4:7757800-7768600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:7757800-7772000	Strong transcription	Fetal Intestine Small	intestine
11	chr4:7758000-7780800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:7758200-7783200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:7758400-7795400	Weak transcription	Hela-S3	cervix
14	chr4:7758600-7780600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:7759400-7790400	Weak transcription	Psoas Muscle	Psoas
16	chr4:7759800-7771600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:7759800-7773800	Weak transcription	Fetal Kidney	kidney
18	chr4:7760000-7770000	Strong transcription	Fetal Stomach	stomach
19	chr4:7760000-7783000	Strong transcription	HSMMtube	muscle
20	chr4:7760000-7783200	Strong transcription	HSMM	muscle
21	chr4:7760200-7768800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:7760200-7774200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:7760200-7779400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:7760400-7768400	Weak transcription	Left Ventricle	heart
25	chr4:7760400-7780400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:7760600-7780000	Weak transcription	Right Atrium	heart
27	chr4:7761000-7767800	Strong transcription	Stomach Smooth Muscle	stomach
28	chr4:7761000-7780400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:7761200-7769800	Weak transcription	Small Intestine	intestine
30	chr4:7761200-7770600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr4:7761200-7772000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:7761200-7781000	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr4:7761400-7773400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr4:7761400-7784400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:7761600-7767800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr4:7761600-7769200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr4:7761800-7767800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:7761800-7774400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:7762000-7772000	Strong transcription	Fetal Intestine Large	intestine
40	chr4:7762000-7773800	Strong transcription	NHLF	lung
41	chr4:7762000-7788000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:7762000-7805800	Weak transcription	Stomach Mucosa	stomach
43	chr4:7762200-7770200	Strong transcription	Fetal Brain Female	brain
44	chr4:7762200-7771200	Strong transcription	NHEK	skin
45	chr4:7762200-7772800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr4:7762400-7772200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:7762800-7767800	Weak transcription	Pancreas	Pancrea
48	chr4:7762800-7768400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr4:7762800-7768800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr4:7763000-7775400	Weak transcription	Right Ventricle	heart

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