Variant report

Variant	rs2239949
Chromosome Location	chr19:36276086-36276087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36248580..36254743-chr19:36274692..36280659,6	K562	blood:
2	chr19:36272079..36274147-chr19:36275099..36277481,2	MCF-7	breast:

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

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11879518	0.85[EUR][1000 genomes]
rs2619200	0.85[EUR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2239949	U2AF1L4	Cis_1M	lymphoblastoid	RTeQTL
rs2239949	TMEM149	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36266800-36281800	Weak transcription	Liver	Liver
2	chr19:36267400-36277600	Weak transcription	Right Atrium	heart
3	chr19:36267400-36277800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:36267400-36281600	Weak transcription	Small Intestine	intestine
5	chr19:36267600-36279200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:36267800-36276400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr19:36267800-36278000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr19:36267800-36280600	Weak transcription	HUVEC	blood vessel
9	chr19:36267800-36284200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:36268400-36278600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:36268400-36278600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:36268400-36284200	Weak transcription	K562	blood
13	chr19:36268600-36277600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:36268600-36279200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr19:36268600-36279400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:36268600-36279600	Strong transcription	Thymus	Thymus
17	chr19:36268600-36281000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr19:36268600-36281000	Strong transcription	Fetal Stomach	stomach
19	chr19:36268800-36277800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr19:36268800-36278400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr19:36268800-36278600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:36268800-36278800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:36268800-36279000	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr19:36268800-36280000	Strong transcription	Fetal Muscle Leg	muscle
25	chr19:36269000-36277800	Strong transcription	Fetal Thymus	thymus
26	chr19:36269000-36278400	Strong transcription	Lung	lung
27	chr19:36269000-36278800	Strong transcription	Brain Hippocampus Middle	brain
28	chr19:36269200-36277200	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr19:36269200-36279200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr19:36269400-36278400	Strong transcription	Spleen	Spleen
31	chr19:36269600-36276800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr19:36270000-36277400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:36270000-36278400	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr19:36270200-36278400	Strong transcription	Dnd41	blood
35	chr19:36270400-36278200	Weak transcription	Fetal Brain Male	brain
36	chr19:36271000-36277600	Strong transcription	Aorta	Aorta
37	chr19:36271000-36281200	Strong transcription	Brain Germinal Matrix	brain
38	chr19:36271000-36281200	Strong transcription	Fetal Brain Female	brain
39	chr19:36271400-36277400	Strong transcription	NHLF	lung
40	chr19:36271600-36276600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:36272200-36281000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:36272400-36276600	Weak transcription	Primary T cells from cord blood	blood
43	chr19:36272600-36279600	Weak transcription	Left Ventricle	heart
44	chr19:36272800-36277600	Strong transcription	Gastric	stomach
45	chr19:36273000-36276800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr19:36273000-36280600	Weak transcription	Colonic Mucosa	Colon
47	chr19:36273000-36282800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:36273200-36277800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:36273200-36278000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr19:36273200-36284200	Weak transcription	Osteobl	bone

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