Variant report

Variant	rs1419968
Chromosome Location	chr7:127498839-127498840
allele	A/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	RFX5	chr7:127498817-127499164	K562	blood:	n/a	chr7:127499085-127499094
2	POU2F2	chr7:127498782-127499255	GM12878	blood:	n/a	chr7:127499011-127499021 chr7:127499008-127499021 chr7:127499008-127499023 chr7:127499011-127499022

Variant related genes	Relation type
ENSG00000240579	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10274574	0.89[AFR][1000 genomes]
rs1193336	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12668077	0.80[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs12673293	0.84[ASN][1000 genomes]
rs1345509	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1419967	0.84[ASN][1000 genomes]
rs16871926	0.82[ASN][1000 genomes]
rs17151377	0.82[ASN][1000 genomes]
rs17151470	0.85[ASN][1000 genomes]
rs17732677	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1978495	0.85[AFR][1000 genomes]
rs2043981	0.84[AFR][1000 genomes]
rs2058457	0.85[ASN][1000 genomes]
rs2241291	0.88[JPT][hapmap]
rs2582717	0.85[CHB][hapmap]
rs2896395	0.85[AFR][1000 genomes]
rs35774036	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3757760	0.88[JPT][hapmap]
rs3757763	0.88[JPT][hapmap]
rs3779526	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.80[YRI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3808056	0.88[JPT][hapmap]
rs3808061	0.87[EUR][1000 genomes]
rs3808077	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3808082	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3808088	0.80[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs3823995	0.96[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.80[YRI][hapmap];0.85[EUR][1000 genomes]
rs3824001	0.89[AFR][1000 genomes]
rs3824003	0.80[ASN][1000 genomes]
rs4728079	0.84[ASN][1000 genomes]
rs4731386	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58106688	0.84[ASN][1000 genomes]
rs62481416	0.84[ASN][1000 genomes]
rs62481419	0.84[ASN][1000 genomes]
rs62481443	0.81[ASN][1000 genomes]
rs6467148	0.87[AFR][1000 genomes]
rs6467153	0.89[AFR][1000 genomes]
rs6944446	0.87[JPT][hapmap]
rs6970024	0.89[AFR][1000 genomes]
rs6973092	0.96[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes]
rs6976887	0.80[AFR][1000 genomes]
rs6978335	0.84[AFR][1000 genomes]
rs712707	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs712719	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs7784200	0.96[YRI][hapmap]
rs882694	0.85[ASN][1000 genomes]

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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127481400-127501000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr7:127482600-127503200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:127485000-127512000	Weak transcription	Aorta	Aorta
4	chr7:127485200-127505000	Weak transcription	HUVEC	blood vessel
5	chr7:127485200-127527800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:127485600-127522000	Weak transcription	Placenta	Placenta
7	chr7:127485800-127515200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:127486800-127502400	Weak transcription	Hela-S3	cervix
9	chr7:127488200-127516400	Weak transcription	HMEC	breast
10	chr7:127488400-127506000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:127488600-127499000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:127488600-127504800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:127488600-127510000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr7:127488600-127515400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:127489600-127508000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:127490000-127500000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:127490200-127512200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:127490400-127506600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:127490600-127505400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:127491200-127504800	Weak transcription	HepG2	liver
21	chr7:127491200-127505000	Weak transcription	Primary B cells from cord blood	blood
22	chr7:127491200-127512200	Weak transcription	A549	lung
23	chr7:127491400-127504400	Weak transcription	NHDF-Ad	bronchial
24	chr7:127491400-127505200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:127491400-127515400	Weak transcription	NH-A	brain
26	chr7:127491400-127527800	Weak transcription	Liver	Liver
27	chr7:127491600-127504800	Weak transcription	Fetal Muscle Leg	muscle
28	chr7:127491600-127504800	Weak transcription	Osteobl	bone
29	chr7:127491600-127505000	Weak transcription	NHLF	lung
30	chr7:127492000-127504800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:127492000-127505200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:127492000-127505200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:127492000-127507400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:127494000-127515400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:127495400-127500200	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr7:127495400-127500600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:127495400-127500800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr7:127495600-127499400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:127495600-127500600	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr7:127495600-127500800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:127495800-127500600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr7:127496400-127499400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr7:127496400-127500600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr7:127496600-127499200	Enhancers	GM12878-XiMat	blood
45	chr7:127496600-127503200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:127496600-127505000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:127496600-127519400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:127496800-127500400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr7:127497000-127506000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:127497200-127504600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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