Variant report

Variant	rs58547264
Chromosome Location	chr4:159082039-159082040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:159081999-159082042	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:159011423..159013282-chr4:159081920..159084638,2	MCF-7	breast:
2	chr4:159075615..159078408-chr4:159081390..159084163,2	MCF-7	breast:
3	chr4:159075926..159078246-chr4:159082036..159083759,2	K562	blood:
4	chr4:159013562..159016824-chr4:159081048..159085392,5	MCF-7	breast:

Variant related genes	Relation type
FAM198B	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11936729	1.00[AMR][1000 genomes]
rs11944517	1.00[AMR][1000 genomes]
rs11945640	1.00[AMR][1000 genomes]
rs11946222	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55788430	1.00[AMR][1000 genomes]
rs56033321	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56167625	1.00[AMR][1000 genomes]
rs56754638	1.00[AMR][1000 genomes]
rs57754015	1.00[AMR][1000 genomes]
rs58624740	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59234905	1.00[AMR][1000 genomes]
rs72967842	1.00[AMR][1000 genomes]
rs72971730	1.00[AMR][1000 genomes]
rs73857535	1.00[AMR][1000 genomes]
rs73857540	1.00[AMR][1000 genomes]
rs73857549	1.00[AMR][1000 genomes]
rs73857576	1.00[AMR][1000 genomes]
rs73857581	1.00[AMR][1000 genomes]
rs73857583	1.00[AMR][1000 genomes]
rs73857587	1.00[AMR][1000 genomes]
rs73857590	1.00[AMR][1000 genomes]
rs73857591	1.00[AMR][1000 genomes]
rs73857593	1.00[AMR][1000 genomes]
rs73857598	1.00[AMR][1000 genomes]
rs7655528	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1030124	chr4:158758675-159251140	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1021067	chr4:158972282-159175475	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:159042800-159083600	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:159062600-159083600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:159072000-159083800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:159073400-159082600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:159073400-159083000	Weak transcription	Pancreas	Pancrea
6	chr4:159076600-159085200	Enhancers	Colon Smooth Muscle	Colon
7	chr4:159076800-159089800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:159077000-159082600	Enhancers	HSMMtube	muscle
9	chr4:159077000-159083000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:159077200-159083600	Enhancers	Fetal Heart	heart
11	chr4:159077600-159082600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:159077600-159082600	Enhancers	Rectal Smooth Muscle	rectum
13	chr4:159077800-159082200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr4:159077800-159082800	Enhancers	Adipose Nuclei	Adipose
15	chr4:159077800-159083600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:159078400-159089000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:159078600-159094000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:159079000-159082600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:159079000-159082600	Weak transcription	Psoas Muscle	Psoas
20	chr4:159079200-159084000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:159079400-159084000	Enhancers	NH-A	brain
22	chr4:159079600-159082600	Weak transcription	HepG2	liver
23	chr4:159079800-159084000	Genic enhancers	HSMM	muscle
24	chr4:159080000-159083400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:159080400-159082200	Enhancers	Brain Cingulate Gyrus	brain
26	chr4:159080400-159082600	Weak transcription	Fetal Intestine Small	intestine
27	chr4:159080400-159082600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr4:159080400-159084000	Enhancers	Brain Anterior Caudate	brain
29	chr4:159080600-159082600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:159080600-159082600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:159080600-159082600	Weak transcription	Fetal Stomach	stomach
32	chr4:159080600-159082600	Weak transcription	Right Ventricle	heart
33	chr4:159080600-159085200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr4:159080600-159086000	Weak transcription	Fetal Intestine Large	intestine
35	chr4:159080800-159082600	Weak transcription	A549	lung
36	chr4:159080800-159082600	Weak transcription	NHDF-Ad	bronchial
37	chr4:159080800-159082600	Weak transcription	Osteobl	bone
38	chr4:159080800-159083000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr4:159080800-159085800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:159080800-159085800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:159081000-159082400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:159081000-159082600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:159081000-159082600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:159081000-159082600	Weak transcription	NHEK	skin
45	chr4:159081000-159083600	Enhancers	HMEC	breast
46	chr4:159081200-159082600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr4:159081200-159082600	Weak transcription	Aorta	Aorta
48	chr4:159081200-159083800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:159081400-159085000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr4:159081600-159082200	Enhancers	Left Ventricle	heart

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