Variant report

Variant	rs34148691
Chromosome Location	chr6:13277867-13277868
allele	CC/GT
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	chr6:13277439-13278482	K562	blood:	n/a	n/a
2	POLR2A	chr6:13277312-13278911	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:13277630-13277978	GM12892	blood:	n/a	n/a
4	POLR2A	chr6:13277648-13278183	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:13268970..13278598-chr6:13326296..13332818,15	K562	blood:
2	chr6:13274897..13277892-chr6:13326296..13329891,5	K562	blood:
3	chr6:13274000..13275754-chr6:13276034..13278687,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215022	TF binding region
PHACTR1	TF binding region
ENSG00000215022	Chromatin interaction
ENSG00000145979	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1512414	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs202042	0.80[ASN][1000 genomes]
rs2119485	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2235173	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs375661	0.82[ASN][1000 genomes]
rs3817735	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs405078	0.82[ASN][1000 genomes]
rs445714	0.82[ASN][1000 genomes]
rs495895	0.82[ASN][1000 genomes]
rs9349548	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9349549	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13249800-13287000	Weak transcription	Fetal Brain Male	brain
2	chr6:13256600-13278200	Weak transcription	Pancreas	Pancrea
3	chr6:13267400-13280400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:13267400-13283600	Weak transcription	Fetal Brain Female	brain
5	chr6:13268000-13278800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:13268000-13283600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:13269200-13282000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:13269400-13284800	Weak transcription	Right Atrium	heart
9	chr6:13269600-13286600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:13269600-13286600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr6:13270200-13291600	Weak transcription	HSMM	muscle
12	chr6:13270400-13282000	Weak transcription	Ovary	ovary
13	chr6:13270400-13285400	Weak transcription	Fetal Heart	heart
14	chr6:13270600-13281000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr6:13270600-13283600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:13271600-13287200	Weak transcription	Fetal Lung	lung
17	chr6:13273000-13283600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:13273400-13286800	Weak transcription	Liver	Liver
19	chr6:13273800-13279400	Weak transcription	Brain Angular Gyrus	brain
20	chr6:13273800-13280400	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:13273800-13291400	Weak transcription	Psoas Muscle	Psoas
22	chr6:13274000-13282600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:13274000-13283800	Weak transcription	Brain Substantia Nigra	brain
24	chr6:13274400-13286800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr6:13274400-13287200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr6:13274400-13289200	Weak transcription	HSMMtube	muscle
27	chr6:13274600-13279400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:13274600-13286200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr6:13274600-13286800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr6:13274600-13302000	Weak transcription	Small Intestine	intestine
31	chr6:13274800-13278000	Weak transcription	Fetal Thymus	thymus
32	chr6:13274800-13286600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr6:13274800-13287000	Weak transcription	Thymus	Thymus
34	chr6:13274800-13292800	Weak transcription	Colon Smooth Muscle	Colon
35	chr6:13275000-13278000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr6:13275000-13280400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr6:13275000-13282800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:13275000-13285000	Weak transcription	Fetal Intestine Small	intestine
39	chr6:13275000-13286800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:13275000-13287000	Weak transcription	Gastric	stomach
41	chr6:13275200-13280200	Weak transcription	Primary T cells from cord blood	blood
42	chr6:13275200-13286400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:13275600-13280200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:13275600-13281000	Weak transcription	Placenta	Placenta
45	chr6:13275600-13286600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr6:13275600-13287000	Weak transcription	Adipose Nuclei	Adipose
47	chr6:13275600-13291600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr6:13275800-13278200	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr6:13275800-13282200	Weak transcription	Brain Hippocampus Middle	brain
50	chr6:13276000-13279800	Weak transcription	Spleen	Spleen

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