Variant report

Variant	rs1022288
Chromosome Location	chr4:119252323-119252324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119200823..119205436-chr4:119252231..119259407,8	K562	blood:
2	chr4:119203944..119207755-chr4:119250346..119253066,4	MCF-7	breast:
3	chr4:119246811..119249310-chr4:119251021..119252751,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10000812	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1022287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1040105	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1110948	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12505156	0.82[ASN][1000 genomes]
rs13124806	0.87[ASN][1000 genomes]
rs1514657	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1514659	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.99[ASN][1000 genomes]
rs1810260	0.87[ASN][1000 genomes]
rs2049362	0.82[ASN][1000 genomes]
rs2389620	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2892799	0.81[ASN][1000 genomes]
rs4279285	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4362895	0.82[ASN][1000 genomes]
rs4546313	0.86[ASN][1000 genomes]
rs4833566	0.85[CEU][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs4833567	0.86[ASN][1000 genomes]
rs4834679	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4834681	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs581739	0.87[ASN][1000 genomes]
rs582448	0.85[CEU][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs586073	0.85[CEU][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs586224	0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs593966	0.87[ASN][1000 genomes]
rs597881	0.87[ASN][1000 genomes]
rs59799599	0.82[EUR][1000 genomes]
rs607961	0.86[ASN][1000 genomes]
rs608228	0.88[ASN][1000 genomes]
rs610222	0.87[ASN][1000 genomes]
rs613083	0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs613443	0.87[ASN][1000 genomes]
rs615165	0.82[ASN][1000 genomes]
rs615837	0.85[ASN][1000 genomes]
rs617140	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62328865	0.87[ASN][1000 genomes]
rs62328871	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs625546	0.86[ASN][1000 genomes]
rs627249	0.85[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs641962	0.87[ASN][1000 genomes]
rs644797	0.82[ASN][1000 genomes]
rs662086	0.87[ASN][1000 genomes]
rs674514	0.87[ASN][1000 genomes]
rs678177	0.86[ASN][1000 genomes]
rs6810739	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6828232	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6837896	0.82[ASN][1000 genomes]
rs6838716	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs705838	0.84[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs705841	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7669243	0.97[ASN][1000 genomes]
rs7688951	0.80[EUR][1000 genomes]
rs7699653	0.80[ASN][1000 genomes]
rs788647	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs788650	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs788651	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs788654	1.00[CEU][hapmap]
rs788655	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs788656	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs788658	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs788661	0.88[ASN][1000 genomes]
rs788662	0.85[CEU][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs788668	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs788669	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs871769	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs871770	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs883998	1.00[CEU][hapmap]
rs908152	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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 target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119202800-119267200	Weak transcription	Stomach Mucosa	stomach
2	chr4:119209600-119258600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:119210000-119259200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:119210200-119258600	Weak transcription	HMEC	breast
5	chr4:119212600-119259200	Weak transcription	NHEK	skin
6	chr4:119220200-119260000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:119229000-119267200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:119239800-119259200	Weak transcription	Fetal Brain Male	brain
9	chr4:119243800-119252800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:119243800-119259000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:119247200-119259200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:119247600-119252600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:119248600-119253600	Weak transcription	Pancreas	Pancrea
14	chr4:119249600-119252400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:119249800-119252600	Weak transcription	Fetal Lung	lung
16	chr4:119249800-119256600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:119250000-119258600	Weak transcription	Osteobl	bone
18	chr4:119250400-119252600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:119250400-119255800	Weak transcription	NHDF-Ad	bronchial
20	chr4:119250800-119252800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:119250800-119253800	Strong transcription	NHLF	lung

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