Variant report

Variant	rs34319969
Chromosome Location	chr7:56094626-56094627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:56094252..56096504-chr7:56118049..56120713,2	MCF-7	breast:
2	chr7:56092875..56095055-chr7:56099185..56100786,2	MCF-7	breast:
3	chr7:56093650..56095156-chr7:56099679..56101422,2	K562	blood:

Variant related genes	Relation type
ENSG00000146733	Chromatin interaction
ENSG00000146731	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10085802	1.00[ASN][1000 genomes]
rs10253539	1.00[ASN][1000 genomes]
rs10253680	1.00[ASN][1000 genomes]
rs12555	1.00[ASN][1000 genomes]
rs13223519	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13228321	0.91[EUR][1000 genomes]
rs13229704	1.00[ASN][1000 genomes]
rs13233834	1.00[ASN][1000 genomes]
rs13234504	1.00[ASN][1000 genomes]
rs13240361	1.00[ASN][1000 genomes]
rs13241531	1.00[ASN][1000 genomes]
rs13247558	1.00[ASN][1000 genomes]
rs17151447	1.00[ASN][1000 genomes]
rs2013197	0.81[ASN][1000 genomes]
rs2304375	0.85[ASN][1000 genomes]
rs2331184	1.00[ASN][1000 genomes]
rs33922584	1.00[ASN][1000 genomes]
rs34023503	0.86[ASN][1000 genomes]
rs34154824	1.00[ASN][1000 genomes]
rs34334997	1.00[ASN][1000 genomes]
rs34477367	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34822782	1.00[ASN][1000 genomes]
rs35007015	1.00[ASN][1000 genomes]
rs35058595	1.00[ASN][1000 genomes]
rs35136814	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35347055	1.00[ASN][1000 genomes]
rs35506072	1.00[ASN][1000 genomes]
rs35515485	1.00[ASN][1000 genomes]
rs35523043	1.00[ASN][1000 genomes]
rs35581685	1.00[ASN][1000 genomes]
rs35818005	0.93[ASN][1000 genomes]
rs35881493	1.00[ASN][1000 genomes]
rs36044787	1.00[ASN][1000 genomes]
rs36049923	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36148650	1.00[ASN][1000 genomes]
rs3778868	1.00[ASN][1000 genomes]
rs4947531	0.82[ASN][1000 genomes]
rs4948089	0.82[ASN][1000 genomes]
rs4948101	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71543775	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71543776	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71543777	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73126344	1.00[ASN][1000 genomes]
rs816219	0.83[ASN][1000 genomes]
rs816242	0.96[ASN][1000 genomes]
rs816412	1.00[ASN][1000 genomes]
rs816413	1.00[ASN][1000 genomes]
rs816415	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	71 gene(s)	inside rSNPs	diseases
8	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer 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	39 gene(s)	inside rSNPs	diseases
9	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
12	nsv1017793	chr7:56051267-56098030	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
13	nsv970482	chr7:56094574-56104957	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34319969	GBAS	cis	Thyroid	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56049200-56101600	Weak transcription	Small Intestine	intestine
2	chr7:56060600-56099600	Weak transcription	HUVEC	blood vessel
3	chr7:56063400-56096800	Weak transcription	NH-A	brain
4	chr7:56063600-56101000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:56063600-56101200	Weak transcription	NHLF	lung
6	chr7:56064400-56101400	Weak transcription	Gastric	stomach
7	chr7:56065000-56101400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr7:56065000-56101400	Weak transcription	Colonic Mucosa	Colon
9	chr7:56065400-56101400	Weak transcription	Fetal Brain Male	brain
10	chr7:56065800-56095800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:56067200-56101400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr7:56067400-56100800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:56067800-56099600	Weak transcription	K562	blood
14	chr7:56068200-56101200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:56075400-56101400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:56077800-56099600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:56077800-56100600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:56078200-56099800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:56078200-56101200	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:56081600-56097000	Weak transcription	Placenta	Placenta
21	chr7:56082200-56101200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:56082600-56101200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:56083600-56096800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:56086000-56100200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:56086400-56098400	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:56086800-56101200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr7:56087400-56101400	Weak transcription	Brain Germinal Matrix	brain
28	chr7:56087600-56101200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:56087600-56101400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:56087800-56097200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:56087800-56101400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:56088000-56095000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:56088000-56101400	Weak transcription	Esophagus	oesophagus
34	chr7:56088000-56101600	Weak transcription	Lung	lung
35	chr7:56088600-56101600	Weak transcription	Spleen	Spleen
36	chr7:56088800-56095800	Weak transcription	Fetal Brain Female	brain
37	chr7:56088800-56096000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:56088800-56096600	Weak transcription	Thymus	Thymus
39	chr7:56088800-56096800	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:56088800-56101400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:56088800-56101400	Weak transcription	Aorta	Aorta
42	chr7:56088800-56101400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:56089000-56095000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr7:56089000-56095000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr7:56089000-56095200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr7:56089000-56095600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr7:56089000-56095600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr7:56089000-56095800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:56089000-56096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:56089000-56096200	Weak transcription	Fetal Thymus	thymus

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