Variant report

Variant	rs1001318
Chromosome Location	chr22:30132167-30132168
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	chr22:30130941..30133818-chr22:30144985..30147499,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12159536	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12163073	0.89[ASN][1000 genomes]
rs13057811	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987142	1.00[YRI][hapmap]
rs2232903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34347404	0.86[EUR][1000 genomes]
rs5997507	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997508	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997509	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5997515	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs5997518	0.89[ASN][1000 genomes]
rs6006229	0.88[EUR][1000 genomes]
rs6006234	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6006235	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6006238	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6006239	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6006241	0.89[ASN][1000 genomes]
rs71331211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7290420	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv914963	chr22:30075052-30133579	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv914964	chr22:30081715-30150549	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv914966	chr22:30088442-30138548	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1065072	chr22:30102176-30155245	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv914967	chr22:30103476-30133579	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30117000-30137200	Weak transcription	HSMM	muscle
2	chr22:30117200-30133800	Weak transcription	Right Atrium	heart
3	chr22:30123000-30135400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr22:30123200-30135800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr22:30123200-30137600	Weak transcription	Osteobl	bone
6	chr22:30123200-30142800	Weak transcription	Brain Substantia Nigra	brain
7	chr22:30123600-30133400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:30123600-30134000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr22:30123600-30135600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:30123600-30146800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:30123600-30147000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr22:30123800-30136600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr22:30124600-30133600	Weak transcription	Fetal Lung	lung
14	chr22:30124600-30136600	Weak transcription	Primary B cells from cord blood	blood
15	chr22:30124800-30135200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr22:30125000-30135600	Weak transcription	Dnd41	blood
17	chr22:30125400-30146200	Weak transcription	NHLF	lung
18	chr22:30125600-30132400	Strong transcription	Lung	lung
19	chr22:30125800-30132400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr22:30126000-30144600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr22:30126200-30132200	Strong transcription	Thymus	Thymus
22	chr22:30126400-30133800	Weak transcription	HSMMtube	muscle
23	chr22:30126600-30145200	Strong transcription	Primary T cells from cord blood	blood
24	chr22:30127600-30133400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr22:30127600-30134400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr22:30127600-30140600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr22:30127800-30135400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr22:30127800-30137200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:30128200-30133800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr22:30128200-30136200	Weak transcription	Small Intestine	intestine
31	chr22:30128400-30135600	Weak transcription	HepG2	liver
32	chr22:30129000-30132400	Strong transcription	Gastric	stomach
33	chr22:30129000-30139200	Strong transcription	Stomach Smooth Muscle	stomach
34	chr22:30129400-30139000	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr22:30129400-30144600	Strong transcription	Liver	Liver
36	chr22:30129800-30132200	Strong transcription	Ovary	ovary
37	chr22:30129800-30133400	Weak transcription	Brain Hippocampus Middle	brain
38	chr22:30129800-30133400	Weak transcription	Fetal Thymus	thymus
39	chr22:30129800-30138600	Strong transcription	Left Ventricle	heart
40	chr22:30129800-30141000	Strong transcription	Fetal Stomach	stomach
41	chr22:30130000-30132200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr22:30130000-30132200	Strong transcription	Adipose Nuclei	Adipose
43	chr22:30130000-30132400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr22:30130000-30132400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr22:30130000-30132800	Weak transcription	Fetal Intestine Large	intestine
46	chr22:30130000-30133800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr22:30130000-30133800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr22:30130000-30135000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr22:30130000-30135200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr22:30130000-30135600	Weak transcription	Brain Angular Gyrus	brain

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