Variant report

Variant	rs10022144
Chromosome Location	chr4:148775559-148775560
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148773944..148776670-chr4:148779781..148781612,2	MCF-7	breast:
2	chr4:148768907..148770611-chr4:148774533..148777296,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10013038	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1036441	1.00[EUR][1000 genomes]
rs10519914	0.82[MEX][hapmap]
rs10519918	1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11723235	1.00[EUR][1000 genomes]
rs11725005	1.00[EUR][1000 genomes]
rs13147854	1.00[EUR][1000 genomes]
rs2118034	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3857095	1.00[TSI][hapmap]
rs4027115	0.88[GIH][hapmap]
rs4240340	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240342	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4835102	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4835104	1.00[EUR][1000 genomes]
rs4835105	1.00[EUR][1000 genomes]
rs4835462	1.00[EUR][1000 genomes]
rs4835465	1.00[EUR][1000 genomes]
rs4835467	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6535564	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6535566	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6852320	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6853610	1.00[EUR][1000 genomes]
rs72955571	1.00[EUR][1000 genomes]
rs7435763	1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7654818	1.00[EUR][1000 genomes]
rs7661267	1.00[EUR][1000 genomes]
rs7663294	1.00[JPT][hapmap]
rs7687859	1.00[EUR][1000 genomes]
rs7700162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs893030	1.00[EUR][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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148737800-148782200	Weak transcription	Thymus	Thymus
2	chr4:148743200-148782200	Weak transcription	Fetal Intestine Large	intestine
3	chr4:148751400-148776000	Weak transcription	Fetal Stomach	stomach
4	chr4:148753400-148782000	Weak transcription	Gastric	stomach
5	chr4:148756800-148777800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:148763200-148796200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr4:148763800-148776000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:148764400-148786000	Weak transcription	NH-A	brain
9	chr4:148764400-148787000	Weak transcription	NHEK	skin
10	chr4:148764600-148775800	Weak transcription	HSMMtube	muscle
11	chr4:148764600-148776200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:148764600-148787800	Weak transcription	HMEC	breast
13	chr4:148766200-148782000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:148766400-148787600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr4:148766600-148796200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr4:148767600-148796400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:148768200-148782400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:148768400-148781000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:148768400-148815600	Weak transcription	Primary T cells from cord blood	blood
20	chr4:148769000-148782200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:148769600-148776000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr4:148769600-148776200	Weak transcription	Small Intestine	intestine
23	chr4:148769600-148782000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:148769600-148782200	Weak transcription	Pancreas	Pancrea
25	chr4:148769600-148782600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:148770000-148782400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:148770200-148775600	Weak transcription	Fetal Heart	heart
28	chr4:148770200-148779000	Weak transcription	Fetal Lung	lung
29	chr4:148770200-148779000	Weak transcription	Osteobl	bone
30	chr4:148770200-148781600	Weak transcription	Adipose Nuclei	Adipose
31	chr4:148770200-148781800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr4:148770400-148776000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:148770400-148796200	Weak transcription	Fetal Kidney	kidney
34	chr4:148770600-148775800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr4:148770800-148776000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:148771600-148776200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:148771800-148782000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:148771800-148782200	Weak transcription	Lung	lung
39	chr4:148772000-148776000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:148772000-148782200	Weak transcription	Fetal Intestine Small	intestine
41	chr4:148772000-148806000	Weak transcription	Fetal Thymus	thymus
42	chr4:148772200-148779400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:148772200-148779400	Weak transcription	GM12878-XiMat	blood
44	chr4:148772200-148782000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:148772400-148785800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:148772600-148782200	Weak transcription	Fetal Muscle Leg	muscle
47	chr4:148772600-148782400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:148773000-148782200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:148773200-148775600	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:148773200-148779400	Weak transcription	HSMM	muscle

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