Variant report

Variant	rs6444542
Chromosome Location	chr3:191110613-191110614
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:191109601..191112408-chr3:191114470..191116944,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11918771	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12633312	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12635242	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2028573	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28396104	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28627146	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60167114	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6444540	0.84[ASN][1000 genomes]
rs66809497	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67382556	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6774730	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6797930	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73185212	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7636627	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7636707	0.98[ASN][1000 genomes]
rs7640087	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7648303	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs920032	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9821594	0.84[ASN][1000 genomes]
rs9834749	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9838011	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9838014	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9841435	0.97[ASN][1000 genomes]
rs9860740	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9985271	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[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	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191071200-191114000	Weak transcription	Colonic Mucosa	Colon
2	chr3:191079400-191115800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:191079600-191116400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:191079600-191121200	Weak transcription	Gastric	stomach
5	chr3:191080200-191118800	Weak transcription	Pancreas	Pancrea
6	chr3:191087000-191115400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:191088600-191119600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:191093400-191119400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:191093400-191121400	Weak transcription	Esophagus	oesophagus
10	chr3:191094800-191114800	Weak transcription	A549	lung
11	chr3:191096000-191130200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:191096600-191114800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:191098000-191111400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:191099400-191122000	Weak transcription	Fetal Brain Male	brain
15	chr3:191099600-191113800	Weak transcription	Brain Hippocampus Middle	brain
16	chr3:191099600-191114000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr3:191099600-191114600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr3:191099600-191120000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:191099800-191117600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr3:191100200-191119200	Weak transcription	Right Ventricle	heart
21	chr3:191100200-191119400	Weak transcription	Psoas Muscle	Psoas
22	chr3:191100200-191119600	Weak transcription	K562	blood
23	chr3:191100400-191114000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr3:191100400-191117400	Weak transcription	Fetal Stomach	stomach
25	chr3:191100400-191117400	Weak transcription	Lung	lung
26	chr3:191100400-191117800	Weak transcription	Small Intestine	intestine
27	chr3:191100400-191120000	Weak transcription	Spleen	Spleen
28	chr3:191100400-191121600	Weak transcription	Fetal Brain Female	brain
29	chr3:191100800-191115400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr3:191101000-191115600	Weak transcription	Fetal Kidney	kidney
31	chr3:191101000-191117600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:191101200-191113600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:191101200-191114200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr3:191101200-191115200	Weak transcription	Fetal Heart	heart
35	chr3:191101200-191115600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr3:191101200-191115800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr3:191101200-191117000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr3:191102200-191117600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:191102400-191110800	Weak transcription	Fetal Lung	lung
40	chr3:191102800-191113400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr3:191103200-191119400	Weak transcription	HSMMtube	muscle
42	chr3:191104800-191116600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:191105000-191110800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:191105000-191114400	Strong transcription	Primary B cells from cord blood	blood
45	chr3:191106000-191110800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:191106800-191117200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:191107000-191111200	Strong transcription	Adipose Nuclei	Adipose
48	chr3:191107000-191114000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:191107200-191110800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr3:191107200-191111000	Strong transcription	Osteobl	bone

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