Variant report

Variant	rs4805154
Chromosome Location	chr19:36533196-36533197
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36524290..36526311-chr19:36531159..36533214,2	MCF-7	breast:
2	chr19:36504276..36506730-chr19:36531216..36534135,2	MCF-7	breast:
3	chr19:36532926..36535623-chr19:36543424..36545492,2	MCF-7	breast:
4	chr19:36530533..36533385-chr19:36544790..36546429,2	MCF-7	breast:
5	chr19:36502180..36504188-chr19:36532444..36535158,2	MCF-7	breast:
6	chr19:36533039..36533612-chr19:36542105..36542614,2	MCF-7	breast:
7	chr19:36531537..36534116-chr19:36539129..36541968,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267698	Chromatin interaction
ENSG00000239382	Chromatin interaction
ENSG00000161277	Chromatin interaction
ENSG00000075702	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10414679	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10414877	0.87[ASN][1000 genomes]
rs10418015	0.91[JPT][hapmap]
rs10420353	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10421966	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10426582	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12462674	0.81[CHB][hapmap]
rs12972490	0.90[ASN][1000 genomes]
rs12972660	0.81[AMR][1000 genomes]
rs12976505	0.92[ASN][1000 genomes]
rs12976812	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs12977802	0.80[AMR][1000 genomes]
rs12977814	0.92[ASN][1000 genomes]
rs12978482	0.92[ASN][1000 genomes]
rs12979093	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12981654	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1548506	0.85[YRI][hapmap]
rs2023865	0.85[CHB][hapmap]
rs2051800	0.85[YRI][hapmap]
rs2075474	0.81[AMR][1000 genomes]
rs34906485	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3826995	0.85[CHB][hapmap]
rs4461192	0.85[CHB][hapmap]
rs4805155	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4806252	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4806253	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4806280	0.81[AMR][1000 genomes]
rs56034793	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62109743	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71337524	0.88[ASN][1000 genomes]
rs7245762	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7247057	0.91[JPT][hapmap]
rs7250448	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7257383	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs757223	0.85[YRI][hapmap]
rs8100250	0.80[AMR][1000 genomes]
rs8103569	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv911641	chr19:36473677-36536938	Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	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:105 , 50 per page) page: 1 2 3

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	chr19:36524000-36537000	Weak transcription	Small Intestine	intestine
4	chr19:36524200-36533200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:36524200-36543800	Weak transcription	Left Ventricle	heart
6	chr19:36524200-36544000	Weak transcription	Primary B cells from cord blood	blood
7	chr19:36524200-36544400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:36524200-36544400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr19:36524200-36544400	Weak transcription	Aorta	Aorta
10	chr19:36524400-36534800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr19:36524400-36535000	Weak transcription	Brain Angular Gyrus	brain
12	chr19:36524400-36537200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:36524400-36537200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr19:36524400-36543800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr19:36524400-36544000	Weak transcription	Fetal Lung	lung
16	chr19:36524600-36537000	Weak transcription	Brain Anterior Caudate	brain
17	chr19:36525400-36533200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr19:36526400-36544200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:36526600-36540200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr19:36526600-36544400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:36526800-36544400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr19:36527000-36544600	Weak transcription	Gastric	stomach
23	chr19:36527600-36536600	Weak transcription	K562	blood
24	chr19:36528400-36544000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr19:36528600-36543800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr19:36528600-36543800	Weak transcription	Fetal Thymus	thymus
27	chr19:36528600-36544000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr19:36528600-36544000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:36528600-36544400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr19:36528600-36544400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr19:36530400-36537600	Weak transcription	Right Ventricle	heart
32	chr19:36530400-36544200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:36530400-36544400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:36530600-36536600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr19:36530600-36537200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr19:36530600-36543800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr19:36530600-36544000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr19:36530600-36544400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr19:36530800-36537200	Weak transcription	Brain Hippocampus Middle	brain
40	chr19:36530800-36537400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:36530800-36543800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr19:36530800-36543800	Weak transcription	Brain Germinal Matrix	brain
43	chr19:36530800-36543800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr19:36531000-36534800	Weak transcription	Dnd41	blood
45	chr19:36531000-36535600	Weak transcription	Fetal Brain Female	brain
46	chr19:36531000-36543800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr19:36531000-36543800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr19:36531000-36543800	Weak transcription	Fetal Muscle Leg	muscle
49	chr19:36531000-36544000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:36531000-36544000	Weak transcription	Esophagus	oesophagus

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