Variant report

Variant	rs12977814
Chromosome Location	chr19:36540180-36540181
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36540144..36542569-chr19:36543525..36546240,4	MCF-7	breast:
2	chr19:36534397..36536403-chr19:36539933..36542572,2	K562	blood:
3	chr19:36539473..36542401-chr19:36548947..36550906,2	K562	blood:
4	chr19:36539602..36541905-chr19:36543597..36546467,2	MCF-7	breast:
5	chr19:36531537..36534116-chr19:36539129..36541968,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075702	Chromatin interaction
ENSG00000161277	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10407011	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10414679	0.82[ASN][1000 genomes]
rs10414877	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10420353	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10421966	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10423651	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10425692	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10426582	1.00[ASN][1000 genomes]
rs12462432	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12462632	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12462674	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12972490	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12976505	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12976812	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12978482	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12979093	1.00[ASN][1000 genomes]
rs12981654	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17639286	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2023865	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2239510	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34906485	0.92[ASN][1000 genomes]
rs35125548	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35875194	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3826995	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4461192	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4805154	0.92[ASN][1000 genomes]
rs4805155	1.00[ASN][1000 genomes]
rs4806252	0.96[ASN][1000 genomes]
rs4806253	0.98[ASN][1000 genomes]
rs56034793	0.80[ASN][1000 genomes]
rs62109743	0.80[ASN][1000 genomes]
rs71337524	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs721542	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7250448	0.98[ASN][1000 genomes]
rs7259592	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7260609	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8103569	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS 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	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36506400-36544400	Weak transcription	GM12878-XiMat	blood
2	chr19:36515400-36544600	Weak transcription	Pancreas	Pancrea
3	chr19:36524200-36543800	Weak transcription	Left Ventricle	heart
4	chr19:36524200-36544000	Weak transcription	Primary B cells from cord blood	blood
5	chr19:36524200-36544400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:36524200-36544400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr19:36524200-36544400	Weak transcription	Aorta	Aorta
8	chr19:36524400-36543800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr19:36524400-36544000	Weak transcription	Fetal Lung	lung
10	chr19:36526400-36544200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:36526600-36540200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr19:36526600-36544400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:36526800-36544400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:36527000-36544600	Weak transcription	Gastric	stomach
15	chr19:36528400-36544000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:36528600-36543800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr19:36528600-36543800	Weak transcription	Fetal Thymus	thymus
18	chr19:36528600-36544000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr19:36528600-36544000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:36528600-36544400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr19:36528600-36544400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr19:36530400-36544200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:36530400-36544400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:36530600-36543800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr19:36530600-36544000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr19:36530600-36544400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr19:36530800-36543800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr19:36530800-36543800	Weak transcription	Brain Germinal Matrix	brain
29	chr19:36530800-36543800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr19:36531000-36543800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:36531000-36543800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr19:36531000-36543800	Weak transcription	Fetal Muscle Leg	muscle
33	chr19:36531000-36544000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:36531000-36544000	Weak transcription	Esophagus	oesophagus
35	chr19:36531200-36543800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:36531200-36544000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr19:36531400-36544000	Weak transcription	Spleen	Spleen
38	chr19:36531800-36541400	Weak transcription	Fetal Stomach	stomach
39	chr19:36531800-36543600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:36532600-36543800	Weak transcription	Fetal Intestine Large	intestine
41	chr19:36532800-36543600	Weak transcription	Hela-S3	cervix
42	chr19:36533000-36544600	Weak transcription	Lung	lung
43	chr19:36533200-36544200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr19:36533200-36544400	Weak transcription	Fetal Heart	heart
45	chr19:36533200-36544400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr19:36533400-36542000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr19:36533400-36542000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:36533400-36542000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:36533400-36543600	Weak transcription	Fetal Kidney	kidney
50	chr19:36533400-36543600	Weak transcription	HSMMtube	muscle

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