Variant report

Variant	rs17021196
Chromosome Location	chr4:147100413-147100414
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	chr4:147100261-147100622	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:147099369..147101389-chr4:147104400..147106028,2	MCF-7	breast:
2	chr4:147096699..147098795-chr4:147099511..147101268,2	MCF-7	breast:
3	chr4:147098952..147101592-chr4:147130358..147132148,2	K562	blood:

Variant related genes	Relation type
LSM6	TF binding region
ENSG00000164167	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10519775	1.00[AMR][1000 genomes]
rs17021144	1.00[AMR][1000 genomes]
rs17021230	1.00[AMR][1000 genomes]
rs2244840	1.00[MEX][hapmap]
rs2679153	1.00[MEX][hapmap]
rs41463144	1.00[MEX][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs6847511	1.00[AMR][1000 genomes]
rs6857745	1.00[AMR][1000 genomes]
rs7662843	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs7664522	1.00[AMR][1000 genomes]
rs7667848	1.00[AMR][1000 genomes]
rs7683036	1.00[AMR][1000 genomes]
rs7694557	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	nsv461674	chr4:147047072-147143572	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription 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
2	nsv595650	chr4:147047072-147143572	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1018859	chr4:147055618-147138397	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr4:147097600-147108800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:147097800-147101400	Enhancers	Primary B cells from peripheral blood	blood
3	chr4:147097800-147104200	Weak transcription	Placenta	Placenta
4	chr4:147097800-147104600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:147097800-147108600	Weak transcription	HSMMtube	muscle
6	chr4:147097800-147108800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:147097800-147108800	Weak transcription	Esophagus	oesophagus
8	chr4:147097800-147111000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:147097800-147115400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:147098000-147102200	Enhancers	Fetal Heart	heart
11	chr4:147098000-147102800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:147098200-147101000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:147098200-147101200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr4:147098200-147102000	Enhancers	Brain Hippocampus Middle	brain
15	chr4:147098400-147100600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:147098400-147100600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:147098400-147100600	Weak transcription	Fetal Brain Female	brain
18	chr4:147098400-147100800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr4:147098400-147100800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:147098400-147100800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:147098400-147100800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:147098400-147100800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr4:147098400-147101000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:147098400-147101000	Enhancers	Brain Anterior Caudate	brain
25	chr4:147098400-147101200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr4:147098400-147101400	Enhancers	HepG2	liver
27	chr4:147098400-147101600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr4:147098400-147101600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:147098400-147102000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr4:147098400-147102200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr4:147098400-147102400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:147098400-147102600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr4:147098400-147103200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr4:147098400-147103600	Weak transcription	A549	lung
35	chr4:147098400-147104200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr4:147098400-147104400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:147098400-147107400	Weak transcription	HSMM	muscle
38	chr4:147098400-147107800	Weak transcription	Fetal Kidney	kidney
39	chr4:147098400-147108000	Weak transcription	NH-A	brain
40	chr4:147098400-147108800	Weak transcription	NHLF	lung
41	chr4:147098400-147111400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:147098400-147118600	Weak transcription	Colonic Mucosa	Colon
43	chr4:147098600-147100600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:147098600-147100800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:147098600-147101000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr4:147098600-147101000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:147098600-147101000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr4:147098600-147101000	Weak transcription	Stomach Mucosa	stomach
49	chr4:147098600-147101200	Enhancers	Primary T cells from cord blood	blood
50	chr4:147098600-147102000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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