Variant report

Variant	rs173140
Chromosome Location	chr6:149752534-149752535
allele	G/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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:149736139..149738247-chr6:149750968..149753957,2	K562	blood:
2	chr6:149748430..149751387-chr6:149751741..149754089,3	MCF-7	breast:
3	chr6:149749225..149751406-chr6:149752259..149754784,2	K562	blood:
4	chr6:149381576..149384224-chr6:149749932..149753109,3	MCF-7	breast:
5	chr6:149750637..149752761-chr6:149774465..149776310,2	MCF-7	breast:
6	chr6:149404330..149406131-chr6:149751650..149753242,2	MCF-7	breast:
7	chr6:149398184..149404330-chr6:149748783..149757211,17	MCF-7	breast:
8	chr6:149638278..149640828-chr6:149750311..149753449,4	MCF-7	breast:
9	chr10:123366642..123368236-chr6:149751907..149753798,2	MCF-7	breast:
10	chr6:149748841..149750725-chr6:149751621..149753759,2	K562	blood:
11	chr6:149378979..149381253-chr6:149751036..149753374,2	K562	blood:
12	chr6:149335068..149337695-chr6:149751708..149753851,2	MCF-7	breast:
13	chr6:149349695..149350816-chr6:149752428..149753382,4	K562	blood:
14	chr6:149351119..149355583-chr6:149748923..149756337,13	MCF-7	breast:
15	chr6:149379587..149381868-chr6:149752319..149755254,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000055208	Chromatin interaction
ENSG00000236591	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12110948	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2031450	0.85[EUR][1000 genomes]
rs236997	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs236998	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs236999	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs237000	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs237004	0.85[ASN][1000 genomes]
rs237006	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs237007	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs237008	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs237013	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs237014	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs237015	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs237017	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs237020	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs237022	0.84[EUR][1000 genomes]
rs237027	0.85[EUR][1000 genomes]
rs237030	0.85[EUR][1000 genomes]
rs237031	0.85[EUR][1000 genomes]
rs237032	0.85[EUR][1000 genomes]
rs237033	0.85[EUR][1000 genomes]
rs237036	0.85[EUR][1000 genomes]
rs237037	0.85[EUR][1000 genomes]
rs365469	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs389996	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs414956	0.81[ASN][1000 genomes]
rs416262	0.84[ASN][1000 genomes]
rs421037	0.83[ASN][1000 genomes]
rs425540	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs430192	0.84[ASN][1000 genomes]
rs473864	0.83[EUR][1000 genomes]
rs474587	0.83[EUR][1000 genomes]
rs474726	0.83[EUR][1000 genomes]
rs480670	0.82[EUR][1000 genomes]
rs483877	0.83[EUR][1000 genomes]
rs484969	0.83[EUR][1000 genomes]
rs505765	0.83[EUR][1000 genomes]
rs506573	0.82[EUR][1000 genomes]
rs506779	0.83[EUR][1000 genomes]
rs520551	0.83[EUR][1000 genomes]
rs520683	0.83[EUR][1000 genomes]
rs524092	0.83[EUR][1000 genomes]
rs537843	0.83[EUR][1000 genomes]
rs538706	0.83[EUR][1000 genomes]
rs543711	0.83[EUR][1000 genomes]
rs548083	0.83[EUR][1000 genomes]
rs548925	0.82[EUR][1000 genomes]
rs551627	0.82[EUR][1000 genomes]
rs558044	0.83[EUR][1000 genomes]
rs567816	0.83[EUR][1000 genomes]
rs569730	0.82[EUR][1000 genomes]
rs573684	0.83[EUR][1000 genomes]
rs579666	0.83[EUR][1000 genomes]
rs580499	0.81[EUR][1000 genomes]
rs6916134	0.85[EUR][1000 genomes]
rs6926840	0.81[EUR][1000 genomes]
rs7742990	0.85[EUR][1000 genomes]
rs7752947	0.85[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	nsv522875	chr6:149643709-149762537	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv517606	chr6:149744632-149755695	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv470866	chr6:149744632-149806552	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv5533	chr6:149748047-149793072	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149745600-149752800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:149745600-149752800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:149745600-149752800	Weak transcription	HSMM	muscle
4	chr6:149745600-149753000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:149745600-149753000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:149745600-149753000	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:149746800-149753000	Weak transcription	Placenta	Placenta
8	chr6:149746800-149762000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:149748800-149753200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:149749400-149753400	Weak transcription	HSMMtube	muscle
11	chr6:149749800-149764400	Weak transcription	Right Atrium	heart
12	chr6:149752000-149753200	Weak transcription	Hela-S3	cervix

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