Variant report

Variant	rs11930747
Chromosome Location	chr4:6937335-6937336
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:6919019..6922027-chr4:6936429..6940367,3	K562	blood:
2	chr4:6935997..6938458-chr4:6940561..6943507,2	K562	blood:
3	chr4:6936494..6939195-chr4:6954346..6955896,2	K562	blood:
4	chr4:6918904..6922027-chr4:6935797..6939427,3	K562	blood:

Variant related genes	Relation type
ENSG00000265953	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10009332	0.82[ASN][1000 genomes]
rs10937768	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10937769	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10937770	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10937771	0.82[ASN][1000 genomes]
rs11723651	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11723686	0.83[ASN][1000 genomes]
rs11723719	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11728984	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11731639	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11731681	0.82[ASN][1000 genomes]
rs11732389	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11732887	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11733522	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11736355	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11942739	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12499678	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13114976	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13149280	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28392702	0.84[ASN][1000 genomes]
rs28425595	0.93[ASN][1000 genomes]
rs4234790	0.83[ASN][1000 genomes]
rs4261987	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4346651	0.80[ASN][1000 genomes]
rs4513567	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4689055	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4689057	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58935653	0.82[ASN][1000 genomes]
rs61488923	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62291136	0.84[EUR][1000 genomes]
rs62292202	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6446550	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6446551	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6446552	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6446553	0.94[ASN][1000 genomes]
rs6831368	0.84[ASN][1000 genomes]
rs6831590	0.94[ASN][1000 genomes]
rs6848114	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7664348	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7668186	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7689337	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9291123	0.85[ASN][1000 genomes]
rs9291124	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9790586	0.83[EUR][1000 genomes]
rs9999025	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9999127	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv980396	chr4:6929613-6942211	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6919600-6942200	Weak transcription	Hela-S3	cervix
2	chr4:6920200-6939600	Weak transcription	HUVEC	blood vessel
3	chr4:6926200-6942000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:6926200-6942600	Weak transcription	NHEK	skin
5	chr4:6926200-6943200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:6926600-6939200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:6928000-6937400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:6928000-6939200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:6928000-6942000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:6928000-6969600	Weak transcription	Aorta	Aorta
11	chr4:6929000-6942000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:6929000-6942200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:6929200-6942000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:6929400-6942400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:6929600-6942400	Weak transcription	Small Intestine	intestine
16	chr4:6929800-6939200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr4:6929800-6943200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:6930000-6940400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:6930600-6939200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:6931400-6937800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:6931400-6940000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:6931400-6943200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:6931600-6937800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:6931600-6940800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr4:6931600-6942000	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:6932000-6939200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr4:6932000-6939200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:6932000-6939800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:6932000-6940000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:6932000-6941600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr4:6932000-6942000	Weak transcription	Stomach Mucosa	stomach
32	chr4:6932000-6943400	Weak transcription	Fetal Brain Female	brain
33	chr4:6932000-6943400	Weak transcription	Fetal Kidney	kidney
34	chr4:6932200-6938200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr4:6932200-6939200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:6932200-6939200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:6932200-6939400	Weak transcription	Primary B cells from cord blood	blood
38	chr4:6932200-6939400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr4:6932200-6939800	Weak transcription	Left Ventricle	heart
40	chr4:6932200-6939800	Weak transcription	Right Atrium	heart
41	chr4:6932200-6940800	Weak transcription	Primary T cells from cord blood	blood
42	chr4:6932200-6943200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr4:6932400-6939200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:6933000-6939200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr4:6933400-6939000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr4:6933400-6939200	Weak transcription	Fetal Muscle Leg	muscle
47	chr4:6933400-6939400	Weak transcription	Pancreas	Pancrea
48	chr4:6933400-6942200	Weak transcription	Psoas Muscle	Psoas
49	chr4:6933600-6939200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr4:6933600-6939400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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