Variant report

Variant	rs34031911
Chromosome Location	chr19:36209700-36209701
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36034283..36038136-chr19:36206970..36210335,6	K562	blood:
2	chr19:36136475..36140054-chr19:36207952..36210367,3	MCF-7	breast:
3	chr19:36133592..36136218-chr19:36207471..36210079,2	MCF-7	breast:
4	chr19:36034638..36039287-chr19:36205354..36210335,7	K562	blood:
5	chr19:36208185..36209878-chr19:36358146..36361161,3	K562	blood:
6	chr19:36018973..36020669-chr19:36208062..36210070,2	K562	blood:
7	chr19:36207787..36211113-chr19:36265053..36268029,3	K562	blood:
8	chr19:36208378..36210285-chr19:36358548..36361708,3	K562	blood:
9	chr19:36208921..36210608-chr19:36499552..36501350,2	MCF-7	breast:
10	chr19:36208210..36211144-chr19:36264877..36267691,4	MCF-7	breast:
11	chr19:36047300..36050125-chr19:36207207..36209834,3	K562	blood:
12	chr19:36207151..36210695-chr19:36264649..36268718,5	K562	blood:
13	chr19:36035974..36038022-chr19:36207371..36209822,3	MCF-7	breast:
14	chr19:36133481..36135868-chr19:36206189..36210381,3	K562	blood:
15	chr19:35758844..35760411-chr19:36208018..36210634,2	MCF-7	breast:
16	chr19:36208544..36210188-chr19:36360524..36362280,2	MCF-7	breast:
17	chr19:36203511..36205032-chr19:36208383..36210782,2	MCF-7	breast:
18	chr19:36208456..36210034-chr19:36345854..36347720,2	K562	blood:
19	chr19:36206099..36210841-chr19:36246614..36251827,8	MCF-7	breast:
20	chr19:36035457..36038261-chr19:36205897..36210098,5	MCF-7	breast:
21	chr19:36207379..36214815-chr19:36234227..36241330,25	MCF-7	breast:
22	chr19:36205476..36213390-chr19:36226310..36233646,27	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105663	Chromatin interaction
ENSG00000105677	Chromatin interaction
ENSG00000161270	Chromatin interaction
ENSG00000267796	Chromatin interaction
ENSG00000004776	Chromatin interaction
ENSG00000236144	Chromatin interaction
ENSG00000011590	Chromatin interaction
ENSG00000188223	Chromatin interaction
ENSG00000126246	Chromatin interaction
ENSG00000105675	Chromatin interaction
ENSG00000126259	Chromatin interaction
ENSG00000181392	Chromatin interaction
ENSG00000161265	Chromatin interaction
ENSG00000205155	Chromatin interaction
ENSG00000267120	Chromatin interaction
ENSG00000189001	Chromatin interaction
ENSG00000004777	Chromatin interaction
ENSG00000105290	Chromatin interaction
ENSG00000126267	Chromatin interaction
ENSG00000167595	Chromatin interaction
ENSG00000267439	Chromatin interaction
ENSG00000105698	Chromatin interaction
ENSG00000105672	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10402601	0.82[AFR][1000 genomes]
rs10402837	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10413852	0.91[EUR][1000 genomes]
rs12104249	0.89[EUR][1000 genomes]
rs12459073	0.81[EUR][1000 genomes]
rs12461285	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12461333	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12463059	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234371	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293686	0.82[AFR][1000 genomes]
rs28633929	0.82[EUR][1000 genomes]
rs28656784	0.82[AFR][1000 genomes]
rs2871921	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs35209304	0.93[EUR][1000 genomes]
rs35729071	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3746277	0.86[AFR][1000 genomes]
rs3761087	0.82[AFR][1000 genomes]
rs3848662	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3848665	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs56189160	0.86[EUR][1000 genomes]
rs62109452	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62109998	0.92[EUR][1000 genomes]
rs7249885	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7260184	0.82[AFR][1000 genomes]
rs73048504	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8106959	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9304874	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv828544	chr19:36207191-36210758	Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
10	esv3365662	chr19:36208037-36210160	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs34031911	RN7SL765P	cis	Muscle Skeletal	GTEx
rs34031911	TMEM149	cis	multi-tissue	Pritchard
rs34031911	U2AF1L4	cis	Muscle Skeletal	GTEx
rs34031911	TMEM149	Cis_1M	lymphoblastoid	RTeQTL
rs34031911	U2AF1L4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36206600-36209800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr19:36206600-36210000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:36206600-36210200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr19:36206800-36210200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:36206800-36210200	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr19:36206800-36210400	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr19:36207000-36210000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr19:36207000-36210000	Active TSS	NHDF-Ad	bronchial
9	chr19:36207000-36210200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr19:36207000-36210400	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr19:36207000-36210400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr19:36207200-36209800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:36207200-36209800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:36207200-36209800	Active TSS	Fetal Intestine Large	intestine
15	chr19:36207200-36209800	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr19:36207200-36210000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:36207200-36210000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:36207200-36210000	Active TSS	Aorta	Aorta
19	chr19:36207200-36210000	Active TSS	Left Ventricle	heart
20	chr19:36207200-36210000	Active TSS	Psoas Muscle	Psoas
21	chr19:36207200-36210000	Active TSS	Small Intestine	intestine
22	chr19:36207200-36210600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:36207400-36209800	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr19:36207400-36209800	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr19:36207400-36209800	Active TSS	Brain Angular Gyrus	brain
26	chr19:36207400-36209800	Active TSS	Brain Anterior Caudate	brain
27	chr19:36207400-36209800	Active TSS	Brain Cingulate Gyrus	brain
28	chr19:36207400-36209800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:36207400-36209800	Active TSS	Colon Smooth Muscle	Colon
30	chr19:36207400-36209800	Active TSS	Esophagus	oesophagus
31	chr19:36207400-36209800	Active TSS	Fetal Intestine Small	intestine
32	chr19:36207400-36209800	Active TSS	Fetal Lung	lung
33	chr19:36207400-36209800	Active TSS	Fetal Stomach	stomach
34	chr19:36207400-36209800	Active TSS	Stomach Mucosa	stomach
35	chr19:36207400-36210000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr19:36207400-36210000	Active TSS	Ovary	ovary
37	chr19:36207400-36210200	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr19:36207600-36209800	Active TSS	H1 Cell Line	embryonic stem cell
39	chr19:36207600-36209800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr19:36207600-36209800	Active TSS	Osteobl	bone
41	chr19:36207600-36210200	Active TSS	A549	lung
42	chr19:36207800-36209800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr19:36207800-36209800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:36207800-36209800	Active TSS	Primary T cells from cord blood	blood
45	chr19:36207800-36209800	Active TSS	Muscle Satellite Cultured Cells	--
46	chr19:36207800-36209800	Active TSS	Pancreas	Pancrea
47	chr19:36207800-36209800	Active TSS	Thymus	Thymus
48	chr19:36207800-36209800	Active TSS	K562	blood
49	chr19:36207800-36210400	Active TSS	HSMMtube	muscle
50	chr19:36207800-36210600	Active TSS	HSMM	muscle

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