Variant report

Variant	rs3122302
Chromosome Location	chr1:152010316-152010317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:152004043..152013121-chr1:152013584..152022966,19	K562	blood:
2	chr1:151958520..151979218-chr1:151992734..152014750,97	MCF-7	breast:
3	chr1:152008592..152010631-chr1:153605290..153607916,2	MCF-7	breast:
4	chr1:152008988..152011205-chr1:152060137..152062743,2	MCF-7	breast:
5	chr1:151879656..151883388-chr1:152007614..152010954,7	K562	blood:
6	chr1:151812161..151813920-chr1:152008098..152012154,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229021	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000271853	Chromatin interaction
ENSG00000159445	Chromatin interaction
ENSG00000189171	Chromatin interaction
ENSG00000272030	Chromatin interaction
ENSG00000182898	Chromatin interaction
ENSG00000225556	Chromatin interaction
ENSG00000160679	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2999550	0.82[ASN][1000 genomes]
rs2999551	0.90[EUR][1000 genomes]
rs2999552	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2999553	0.90[EUR][1000 genomes]
rs2999554	0.87[EUR][1000 genomes]
rs2999555	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2999559	0.83[ASN][1000 genomes]
rs3007671	0.88[ASN][1000 genomes]
rs3007672	0.90[EUR][1000 genomes]
rs3007673	0.90[EUR][1000 genomes]
rs3007674	0.88[ASN][1000 genomes]
rs3007676	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3007677	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3007678	0.90[EUR][1000 genomes]
rs3007679	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3122300	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3122301	0.90[EUR][1000 genomes]
rs3122303	0.90[EUR][1000 genomes]
rs3122304	0.90[EUR][1000 genomes]
rs3811422	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases
5	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152009600-152010400	Enhancers	Lung	lung
2	chr1:152009600-152010400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:152009600-152011000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:152009600-152011200	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:152009600-152011400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr1:152009600-152012000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr1:152009600-152019800	Weak transcription	Small Intestine	intestine
8	chr1:152009800-152010400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:152009800-152010400	Enhancers	Placenta	Placenta
10	chr1:152009800-152010400	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr1:152009800-152010800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:152009800-152011000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:152009800-152011200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:152009800-152011400	Enhancers	Fetal Intestine Large	intestine
15	chr1:152009800-152011400	Enhancers	Fetal Intestine Small	intestine
16	chr1:152009800-152011600	Enhancers	Duodenum Mucosa	Duodenum
17	chr1:152009800-152011600	Enhancers	K562	blood
18	chr1:152009800-152012800	Enhancers	Thymus	Thymus
19	chr1:152009800-152013400	Enhancers	Stomach Mucosa	stomach
20	chr1:152010000-152010400	Weak transcription	GM12878-XiMat	blood
21	chr1:152010000-152010600	Enhancers	Primary B cells from cord blood	blood
22	chr1:152010000-152010600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr1:152010000-152011000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:152010000-152011000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:152010000-152011200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:152010000-152011200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:152010000-152011200	Enhancers	Hela-S3	cervix
28	chr1:152010000-152011400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:152010000-152011400	Enhancers	Dnd41	blood
30	chr1:152010000-152011600	Enhancers	Primary hematopoietic stem cells	blood
31	chr1:152010000-152011800	Weak transcription	Esophagus	oesophagus
32	chr1:152010000-152012200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:152010000-152013800	Enhancers	Fetal Thymus	thymus
34	chr1:152010000-152016400	Weak transcription	Adipose Nuclei	Adipose
35	chr1:152010000-152017000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:152010000-152018400	Weak transcription	A549	lung
37	chr1:152010000-152018400	Weak transcription	NHEK	skin
38	chr1:152010000-152019800	Weak transcription	Primary T cells from cord blood	blood
39	chr1:152010000-152020000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:152010200-152010400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:152010200-152010600	Weak transcription	Fetal Lung	lung
42	chr1:152010200-152014400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr1:152010200-152016000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:152010200-152020000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:152010200-152020000	Weak transcription	Colonic Mucosa	Colon
46	chr1:152010200-152020400	Weak transcription	Gastric	stomach

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