Variant report

Variant	rs3824001
Chromosome Location	chr7:127471258-127471259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:30812418..30814801-chr7:127470835..127472989,2	MCF-7	breast:
2	chr7:127465972..127469010-chr7:127469751..127472262,3	K562	blood:
3	chr7:127471216..127474145-chr7:127474684..127476389,2	K562	blood:
4	chr7:127465782..127468789-chr7:127470154..127473836,3	MCF-7	breast:
5	chr7:127467513..127471385-chr7:127477600..127480092,3	K562	blood:
6	chr7:127461577..127463723-chr7:127469665..127472134,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10274574	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1419968	0.89[AFR][1000 genomes]
rs1978495	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2043981	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2402868	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6467140	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6467148	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6467153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947779	0.87[AFR][1000 genomes]
rs6970024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976887	0.90[AFR][1000 genomes]
rs6978335	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7784200	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
2	chr7:127448400-127484800	Weak transcription	Aorta	Aorta
3	chr7:127449000-127484200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr7:127449600-127472600	Weak transcription	Lung	lung
5	chr7:127456400-127476800	Weak transcription	Esophagus	oesophagus
6	chr7:127457000-127477600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:127457000-127497800	Weak transcription	Gastric	stomach
8	chr7:127460800-127472800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:127460800-127477200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:127461000-127484400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:127461000-127495600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:127461000-127497600	Weak transcription	Fetal Stomach	stomach
13	chr7:127461400-127471400	Weak transcription	Right Atrium	heart
14	chr7:127461400-127473400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:127461400-127474600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:127461400-127476000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:127461400-127476800	Weak transcription	HSMM	muscle
18	chr7:127461400-127477000	Weak transcription	Primary T cells from cord blood	blood
19	chr7:127461400-127477200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:127461400-127477200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr7:127461400-127477400	Weak transcription	NH-A	brain
22	chr7:127461400-127477600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:127461600-127473400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr7:127461600-127473800	Weak transcription	NHDF-Ad	bronchial
25	chr7:127461600-127485600	Weak transcription	HSMMtube	muscle
26	chr7:127463200-127477200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr7:127463400-127474400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:127463400-127476200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:127463400-127477600	Weak transcription	Fetal Intestine Small	intestine
30	chr7:127463400-127479000	Weak transcription	Fetal Lung	lung
31	chr7:127463600-127472600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr7:127463600-127473200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr7:127463600-127474400	Weak transcription	Spleen	Spleen
34	chr7:127463600-127477600	Weak transcription	HMEC	breast
35	chr7:127463600-127482800	Weak transcription	Small Intestine	intestine
36	chr7:127463800-127472800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:127463800-127474600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:127463800-127475600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr7:127463800-127477200	Weak transcription	NHEK	skin
40	chr7:127464000-127474600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:127464600-127473800	Weak transcription	K562	blood
42	chr7:127464800-127471800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:127465000-127483200	Weak transcription	HepG2	liver
44	chr7:127465200-127473200	Weak transcription	HUVEC	blood vessel
45	chr7:127469000-127472600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:127469400-127471400	Weak transcription	Left Ventricle	heart
47	chr7:127469400-127471800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:127469400-127472800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:127469400-127476000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:127469400-127488800	Weak transcription	Thymus	Thymus

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