Variant report

Variant	rs34562867
Chromosome Location	chr19:36230767-36230768
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36205476..36213390-chr19:36226310..36233646,27	MCF-7	breast:
2	chr19:36229002..36231040-chr19:36266877..36269774,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-U2AF1L4-3	chr19:36230725-36230989	NONHSAT065897

Variant related genes	Relation type
ENSG00000272333	Chromatin interaction
ENSG00000004777	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11546662	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11546665	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16970649	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17776834	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2227278	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2234360	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2234375	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2267585	0.83[EUR][1000 genomes]
rs2267586	0.84[EUR][1000 genomes]
rs2285420	0.80[EUR][1000 genomes]
rs231217	0.83[AMR][1000 genomes]
rs2871893	0.81[EUR][1000 genomes]
rs2871894	0.81[EUR][1000 genomes]
rs35297478	0.82[EUR][1000 genomes]
rs3817622	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3893069	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4580318	0.83[EUR][1000 genomes]
rs4992668	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55955981	0.82[EUR][1000 genomes]
rs56813196	0.81[EUR][1000 genomes]
rs56849855	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57180990	0.83[EUR][1000 genomes]
rs58142685	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58255615	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58496446	0.83[EUR][1000 genomes]
rs58952294	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61254015	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61351824	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61375471	0.83[EUR][1000 genomes]
rs73590543	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73590544	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73590559	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73590561	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73590564	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73590568	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73590576	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73590585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73590591	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73590598	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73592416	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73592448	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73592461	0.89[EUR][1000 genomes]
rs73592484	0.82[EUR][1000 genomes]
rs73599271	0.82[EUR][1000 genomes]
rs73599279	0.81[EUR][1000 genomes]
rs73599281	0.81[EUR][1000 genomes]
rs73599286	0.83[EUR][1000 genomes]
rs73599289	0.83[EUR][1000 genomes]
rs73600880	0.83[EUR][1000 genomes]
rs73600881	0.83[EUR][1000 genomes]
rs73600885	0.84[EUR][1000 genomes]
rs73600892	0.81[EUR][1000 genomes]
rs73600893	0.83[EUR][1000 genomes]
rs73602803	0.80[EUR][1000 genomes]
rs73602804	0.80[EUR][1000 genomes]
rs73602806	0.80[EUR][1000 genomes]
rs73602823	0.85[EUR][1000 genomes]
rs73602827	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73602832	0.85[EUR][1000 genomes]
rs73602833	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv543996	chr19:36210269-36265431	Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	nsv515536	chr19:36219525-36240960	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
14	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
15	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36210600-36231200	Weak transcription	Fetal Brain Male	brain
2	chr19:36210800-36231000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:36222200-36231000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:36222400-36231200	Weak transcription	HSMMtube	muscle
5	chr19:36224000-36231200	Weak transcription	Small Intestine	intestine
6	chr19:36227400-36231000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr19:36229000-36230800	Genic enhancers	Spleen	Spleen
8	chr19:36229000-36230800	Weak transcription	NH-A	brain
9	chr19:36229000-36230800	Weak transcription	NHDF-Ad	bronchial
10	chr19:36229200-36230800	Weak transcription	HUVEC	blood vessel
11	chr19:36229600-36230800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr19:36229600-36230800	Weak transcription	Aorta	Aorta
13	chr19:36229600-36230800	Weak transcription	HMEC	breast
14	chr19:36230000-36230800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
15	chr19:36230000-36230800	Genic enhancers	Stomach Smooth Muscle	stomach
16	chr19:36230000-36231000	Weak transcription	Fetal Kidney	kidney
17	chr19:36230200-36230800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:36230200-36230800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr19:36230200-36230800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr19:36230200-36230800	Genic enhancers	Primary T cells fromperipheralblood	blood
21	chr19:36230200-36230800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr19:36230200-36230800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr19:36230200-36230800	Enhancers	Adipose Nuclei	Adipose
24	chr19:36230200-36230800	Weak transcription	Fetal Intestine Large	intestine
25	chr19:36230200-36230800	Genic enhancers	Gastric	stomach
26	chr19:36230200-36230800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr19:36230200-36230800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr19:36230200-36230800	Weak transcription	Thymus	Thymus
29	chr19:36230200-36230800	Genic enhancers	Monocytes-CD14+_RO01746	blood
30	chr19:36230200-36230800	Weak transcription	NHEK	skin
31	chr19:36230200-36230800	Weak transcription	Osteobl	bone
32	chr19:36230200-36231000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:36230200-36231000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr19:36230200-36231000	Genic enhancers	Placenta	Placenta
35	chr19:36230200-36231000	Enhancers	Stomach Mucosa	stomach
36	chr19:36230200-36231400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:36230400-36230800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr19:36230400-36230800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
39	chr19:36230400-36230800	Genic enhancers	Primary B cells from peripheral blood	blood
40	chr19:36230400-36230800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:36230400-36230800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr19:36230400-36230800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr19:36230400-36230800	Enhancers	Right Ventricle	heart
44	chr19:36230400-36230800	Genic enhancers	GM12878-XiMat	blood
45	chr19:36230400-36230800	Enhancers	K562	blood
46	chr19:36230400-36231000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:36230400-36231000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:36230400-36231000	Genic enhancers	Primary monocytes fromperipheralblood	blood
49	chr19:36230400-36231000	Enhancers	Primary B cells from cord blood	blood
50	chr19:36230400-36231000	Enhancers	Primary T helper cells PMA-I stimulated	--

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