Variant report

Variant	rs4520444
Chromosome Location	chr1:197141988-197141989
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1009188	0.84[JPT][hapmap];0.84[MEX][hapmap]
rs10754220	0.84[JPT][hapmap];0.84[MEX][hapmap]
rs10922152	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs10922153	0.82[CHB][hapmap];0.92[CHD][hapmap];0.91[JPT][hapmap];0.81[MKK][hapmap];0.82[YRI][hapmap]
rs10922178	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1415212	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2990510	0.83[ASW][hapmap];0.96[CEU][hapmap];0.83[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];0.95[MKK][hapmap];0.88[TSI][hapmap];0.92[YRI][hapmap]
rs6676084	0.81[ASW][hapmap];0.96[CEU][hapmap];0.83[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.93[TSI][hapmap];0.92[YRI][hapmap]
rs7411291	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv873070	chr1:197079671-197165014	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873071	chr1:197079671-197187605	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv548871	chr1:197106604-197168233	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv873073	chr1:197107074-197221248	Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197116400-197142200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:197116400-197142200	Weak transcription	HUVEC	blood vessel
3	chr1:197116400-197142400	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:197116400-197142400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:197116400-197142600	Weak transcription	Fetal Brain Female	brain
6	chr1:197116400-197146200	Weak transcription	Gastric	stomach
7	chr1:197116400-197155000	Weak transcription	Fetal Brain Male	brain
8	chr1:197116600-197142600	Weak transcription	HMEC	breast
9	chr1:197116600-197169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:197116800-197143200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:197117000-197142600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:197121600-197154800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:197123800-197143200	Weak transcription	Thymus	Thymus
14	chr1:197123800-197147600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:197124200-197143200	Weak transcription	Fetal Heart	heart
16	chr1:197124600-197142600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:197124600-197155400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:197124800-197144000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:197125000-197142400	Weak transcription	Fetal Kidney	kidney
20	chr1:197125200-197142600	Weak transcription	Small Intestine	intestine
21	chr1:197125200-197142800	Weak transcription	NHEK	skin
22	chr1:197125200-197156000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:197125200-197156400	Weak transcription	Right Ventricle	heart
24	chr1:197125400-197155600	Weak transcription	Fetal Stomach	stomach
25	chr1:197125400-197156200	Weak transcription	Pancreas	Pancrea
26	chr1:197125400-197156400	Weak transcription	Aorta	Aorta
27	chr1:197125400-197156400	Weak transcription	Lung	lung
28	chr1:197125400-197168400	Weak transcription	Psoas Muscle	Psoas
29	chr1:197125600-197160000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:197125600-197169600	Weak transcription	Esophagus	oesophagus
31	chr1:197125800-197143000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:197125800-197158400	Weak transcription	Spleen	Spleen
33	chr1:197126000-197143000	Weak transcription	Brain Substantia Nigra	brain
34	chr1:197126400-197169600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:197127000-197148200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:197128200-197161000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:197128400-197157000	Weak transcription	Colonic Mucosa	Colon
38	chr1:197128600-197142600	Weak transcription	Brain Germinal Matrix	brain
39	chr1:197128800-197142800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:197129000-197142600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:197129000-197142600	Weak transcription	Brain Anterior Caudate	brain
42	chr1:197129000-197142600	Weak transcription	NHLF	lung
43	chr1:197129000-197142800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr1:197129000-197142800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:197129000-197143200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:197129000-197155400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:197129200-197142400	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:197129200-197149200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr1:197130000-197142200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:197130000-197142600	Weak transcription	Fetal Muscle Leg	muscle

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