Variant report

Variant	rs36049923
Chromosome Location	chr7:56098200-56098201
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:56095133..56098395-chr7:56099647..56103046,4	MCF-7	breast:
2	chr7:56095036..56098595-chr7:56117042..56120763,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146733	Chromatin interaction
ENSG00000146731	Chromatin interaction

Extended variants
information (count: 60 )
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[ASN][1000 genomes]
rs13228321	0.89[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]
rs34319969	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34334997	1.00[ASN][1000 genomes]
rs34477367	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34822782	1.00[ASN][1000 genomes]
rs35007015	1.00[ASN][1000 genomes]
rs35058595	1.00[ASN][1000 genomes]
rs35136814	0.94[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]
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	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71543775	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71543776	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71543777	0.95[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:12 , 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	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
rs36049923	GBAS	cis	Thyroid	GTEx

Chromatin state (count:112 , 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	chr7:56063600-56101000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:56063600-56101200	Weak transcription	NHLF	lung
5	chr7:56064400-56101400	Weak transcription	Gastric	stomach
6	chr7:56065000-56101400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr7:56065000-56101400	Weak transcription	Colonic Mucosa	Colon
8	chr7:56065400-56101400	Weak transcription	Fetal Brain Male	brain
9	chr7:56067200-56101400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr7:56067400-56100800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:56067800-56099600	Weak transcription	K562	blood
12	chr7:56068200-56101200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:56075400-56101400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:56077800-56099600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:56077800-56100600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:56078200-56099800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:56078200-56101200	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:56082200-56101200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:56082600-56101200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:56086000-56100200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:56086400-56098400	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:56086800-56101200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr7:56087400-56101400	Weak transcription	Brain Germinal Matrix	brain
24	chr7:56087600-56101200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:56087600-56101400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:56087800-56101400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:56088000-56101400	Weak transcription	Esophagus	oesophagus
28	chr7:56088000-56101600	Weak transcription	Lung	lung
29	chr7:56088600-56101600	Weak transcription	Spleen	Spleen
30	chr7:56088800-56101400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:56088800-56101400	Weak transcription	Aorta	Aorta
32	chr7:56088800-56101400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:56089000-56099600	Weak transcription	GM12878-XiMat	blood
34	chr7:56089000-56100800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:56089000-56101200	Weak transcription	Fetal Kidney	kidney
36	chr7:56089000-56101200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr7:56089000-56101200	Weak transcription	Osteobl	bone
38	chr7:56089000-56101400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr7:56089000-56101400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:56089000-56101400	Weak transcription	Left Ventricle	heart
41	chr7:56089000-56101400	Weak transcription	Ovary	ovary
42	chr7:56089000-56101400	Weak transcription	Pancreas	Pancrea
43	chr7:56089000-56101400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr7:56089000-56101400	Weak transcription	Right Ventricle	heart
45	chr7:56089200-56099400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr7:56089200-56101200	Weak transcription	HSMMtube	muscle
47	chr7:56090400-56101200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr7:56090600-56099600	Weak transcription	Adipose Nuclei	Adipose
49	chr7:56091600-56101200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr7:56092200-56100000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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