Variant report

Variant	rs304722
Chromosome Location	chr19:44113546-44113547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:44113443-44113855	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:44098915..44103795-chr19:44109148..44114101,10	K562	blood:
2	chr19:44109603..44114689-chr19:44115292..44119073,6	K562	blood:
3	chr19:44112456..44114757-chr2:168997248..168998766,2	MCF-7	breast:
4	chr19:44098915..44102164-chr19:44112167..44115504,5	K562	blood:

Variant related genes	Relation type
SRRM5	TF binding region
ENSG00000124444	Chromatin interaction
ENSG00000167378	Chromatin interaction
ENSG00000226763	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10402946	0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs17655646	0.83[CEU][hapmap]
rs2240633	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2270075	0.89[AFR][1000 genomes]
rs304719	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs304720	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs304723	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs304726	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3213282	0.81[ASN][1000 genomes]
rs34521657	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34637472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35346236	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs365063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3803910	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs427115	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4803646	0.85[CEU][hapmap]
rs4803647	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7245651	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8101956	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44101800-44123200	Weak transcription	Small Intestine	intestine
2	chr19:44102000-44122600	Weak transcription	Fetal Kidney	kidney
3	chr19:44102200-44113600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:44102200-44114200	Weak transcription	NH-A	brain
5	chr19:44102200-44114600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr19:44102200-44122600	Weak transcription	Psoas Muscle	Psoas
7	chr19:44102400-44119600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:44102400-44122600	Weak transcription	NHDF-Ad	bronchial
9	chr19:44102600-44115800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:44102600-44116200	Weak transcription	Hela-S3	cervix
11	chr19:44102600-44120600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:44102600-44121200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:44102600-44122600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr19:44102600-44122600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr19:44102800-44120000	Strong transcription	Fetal Stomach	stomach
16	chr19:44103200-44115000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr19:44104000-44114000	Weak transcription	NHLF	lung
18	chr19:44104000-44116000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr19:44104000-44116200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:44104400-44122800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr19:44104600-44115800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr19:44104600-44116200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr19:44104600-44116400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr19:44104800-44123000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr19:44105200-44115800	Weak transcription	HSMM	muscle
26	chr19:44105800-44116200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr19:44106000-44120000	Weak transcription	Right Atrium	heart
28	chr19:44106000-44122600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr19:44106200-44116000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr19:44106200-44122800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr19:44106400-44116000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr19:44106800-44115800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr19:44107000-44115800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:44107200-44114800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:44107200-44116400	Weak transcription	Ovary	ovary
36	chr19:44107200-44116600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr19:44107400-44115800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr19:44107400-44116200	Weak transcription	Fetal Intestine Large	intestine
39	chr19:44109400-44118800	Strong transcription	Dnd41	blood
40	chr19:44110600-44119800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr19:44110800-44114400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:44111200-44116000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr19:44111400-44115000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr19:44111400-44116000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:44111400-44116000	Weak transcription	Brain Angular Gyrus	brain
46	chr19:44111600-44114000	Weak transcription	K562	blood
47	chr19:44111600-44115800	Weak transcription	HepG2	liver
48	chr19:44111600-44116200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr19:44111600-44120400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr19:44111800-44115800	Weak transcription	GM12878-XiMat	blood

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