Variant report

Variant	rs4714775
Chromosome Location	chr6:44267943-44267944
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	chr6:44267918-44268324	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr6:44267918-44268268	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:44215194..44217832-chr6:44265456..44268236,2	K562	blood:
2	chr6:44257360..44259617-chr6:44265641..44268497,2	MCF-7	breast:

Variant related genes	Relation type
TCTE1	TF binding region
ENSG00000096384	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12193699	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs161706	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs324136	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs324141	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs324143	0.82[EUR][1000 genomes]
rs325005	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs325006	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs325007	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs325008	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs325009	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs325010	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325011	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4308546	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4499913	0.85[AFR][1000 genomes]
rs482336	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs484757	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs505617	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs511088	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs534416	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs567192	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs568902	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61462867	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs650075	0.82[EUR][1000 genomes]
rs7740535	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs865027	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9357439	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9472241	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9472243	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9472244	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
4	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
7	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
8	esv1807818	chr6:44266574-44275011	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44265000-44268000	Weak transcription	Dnd41	blood
2	chr6:44265000-44269800	Weak transcription	Hela-S3	cervix
3	chr6:44265400-44268000	Weak transcription	Aorta	Aorta
4	chr6:44265600-44268000	Weak transcription	HepG2	liver
5	chr6:44265600-44268200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:44265600-44279600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:44265800-44268000	Weak transcription	HSMM	muscle
8	chr6:44265800-44269400	Weak transcription	K562	blood
9	chr6:44265800-44270000	Weak transcription	HMEC	breast
10	chr6:44266000-44268000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:44266000-44268000	Weak transcription	Primary T cells from cord blood	blood
12	chr6:44266000-44268000	Weak transcription	Brain Angular Gyrus	brain
13	chr6:44266000-44268000	Weak transcription	Brain Anterior Caudate	brain
14	chr6:44266000-44268000	Weak transcription	Left Ventricle	heart
15	chr6:44266000-44268000	Weak transcription	Ovary	ovary
16	chr6:44266000-44268000	Weak transcription	Right Ventricle	heart
17	chr6:44266000-44268000	Weak transcription	Spleen	Spleen
18	chr6:44266000-44268000	Weak transcription	A549	lung
19	chr6:44266000-44268200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:44266000-44268200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:44266000-44268200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:44266000-44268200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:44266000-44269800	Weak transcription	GM12878-XiMat	blood
24	chr6:44266000-44271600	Weak transcription	NHDF-Ad	bronchial
25	chr6:44266000-44272400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr6:44266000-44276600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:44266000-44277000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr6:44266000-44280000	Weak transcription	Small Intestine	intestine
29	chr6:44266200-44268000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:44266200-44268000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:44266200-44268000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr6:44266200-44268000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr6:44266200-44268000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr6:44266200-44268000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:44266200-44268000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr6:44266200-44268000	Weak transcription	Adipose Nuclei	Adipose
37	chr6:44266200-44268000	Weak transcription	Brain Hippocampus Middle	brain
38	chr6:44266200-44268000	Weak transcription	Pancreas	Pancrea
39	chr6:44266200-44268000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr6:44266200-44268400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr6:44266200-44269000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:44266200-44269600	Weak transcription	Fetal Lung	lung
43	chr6:44266200-44269800	Weak transcription	HSMMtube	muscle
44	chr6:44266200-44270000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:44266200-44270800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr6:44266200-44271200	Weak transcription	Fetal Brain Male	brain
47	chr6:44266200-44276400	Weak transcription	Fetal Heart	heart
48	chr6:44266200-44276800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:44266200-44279600	Weak transcription	Right Atrium	heart
50	chr6:44266400-44268000	Weak transcription	H1 Cell Line	embryonic stem cell

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