Variant report

Variant	rs2291067
Chromosome Location	chr19:36273534-36273535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36248761..36250845-chr19:36272724..36275459,2	MCF-7	breast:
2	chr19:36272079..36274147-chr19:36275099..36277481,2	MCF-7	breast:
3	chr19:36267110..36269446-chr19:36272334..36274173,2	K562	blood:

Variant related genes	Relation type
ENSG00000004777	Chromatin interaction
ENSG00000167595	Chromatin interaction
ENSG00000004776	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11084829	0.89[ASW][hapmap];0.94[CEU][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.82[MKK][hapmap];0.88[TSI][hapmap];0.92[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1133745	0.81[AMR][1000 genomes]
rs11671256	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11671985	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11672640	0.80[AMR][1000 genomes]
rs12460977	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2871921	0.80[MEX][hapmap]
rs35627066	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3848662	0.81[CEU][hapmap];0.80[MEX][hapmap]
rs3925318	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3933421	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56003270	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59805670	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61544275	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62112162	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62112163	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
4	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
5	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
6	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
7	nsv1057830	chr19:36210269-36279794	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	nsv543997	chr19:36210269-36279794	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv911635	chr19:36217333-36283847	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv458567	chr19:36221051-36283847	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv579423	chr19:36221051-36283847	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv911636	chr19:36240960-36290977	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv911637	chr19:36261928-36309321	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
14	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs2291067	U2AF1L4	cis	Muscle Skeletal	GTEx
rs2291067	U2AF1L4	Cis_1M	lymphoblastoid	RTeQTL
rs2291067	MEGF8	cis	parietal	SCAN
rs2291067	TMEM149	cis	multi-tissue	Pritchard
rs2291067	PSG1	cis	parietal	SCAN
rs2291067	TMEM149	cis	Brain Pons	GTEx
rs2291067	FLJ22573	cis	multi-tissue	Pritchard
rs2291067	TMEM149	Cis_1M	lymphoblastoid	RTeQTL
rs2291067	SPTBN4	cis	cerebellum	SCAN
rs2291067	TMEM149	cis	normal skin	skin_eQTL
rs2291067	ZNF233	cis	parietal	SCAN
rs2291067	TMEM149	cis	lymphoblastoid	seeQTL
rs2291067	UPK1A	trans	cerebellum	SCAN
rs2291067	ZNF568	cis	cerebellum	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36266800-36281800	Weak transcription	Liver	Liver
2	chr19:36267000-36274200	Weak transcription	HSMMtube	muscle
3	chr19:36267000-36274400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:36267400-36275200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr19:36267400-36275400	Weak transcription	Primary B cells from cord blood	blood
6	chr19:36267400-36276000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr19:36267400-36276000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr19:36267400-36277600	Weak transcription	Right Atrium	heart
9	chr19:36267400-36277800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:36267400-36281600	Weak transcription	Small Intestine	intestine
11	chr19:36267600-36275400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr19:36267600-36279200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr19:36267800-36276400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr19:36267800-36278000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr19:36267800-36280600	Weak transcription	HUVEC	blood vessel
16	chr19:36267800-36284200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:36268000-36275200	Weak transcription	Colon Smooth Muscle	Colon
18	chr19:36268200-36274800	Weak transcription	NH-A	brain
19	chr19:36268400-36274400	Strong transcription	Fetal Intestine Small	intestine
20	chr19:36268400-36278600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:36268400-36278600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:36268400-36284200	Weak transcription	K562	blood
23	chr19:36268600-36274200	Strong transcription	Fetal Lung	lung
24	chr19:36268600-36274600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:36268600-36275000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:36268600-36277600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:36268600-36279200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr19:36268600-36279400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:36268600-36279600	Strong transcription	Thymus	Thymus
30	chr19:36268600-36281000	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr19:36268600-36281000	Strong transcription	Fetal Stomach	stomach
32	chr19:36268800-36273800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:36268800-36274400	Strong transcription	Ovary	ovary
34	chr19:36268800-36274600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr19:36268800-36274600	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr19:36268800-36275000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr19:36268800-36277800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr19:36268800-36278400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr19:36268800-36278600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:36268800-36278800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:36268800-36279000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr19:36268800-36280000	Strong transcription	Fetal Muscle Leg	muscle
43	chr19:36269000-36274800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr19:36269000-36275600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:36269000-36277800	Strong transcription	Fetal Thymus	thymus
46	chr19:36269000-36278400	Strong transcription	Lung	lung
47	chr19:36269000-36278800	Strong transcription	Brain Hippocampus Middle	brain
48	chr19:36269200-36273600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr19:36269200-36273800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:36269200-36274200	Strong transcription	Brain Anterior Caudate	brain

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