Variant report

Variant	rs2041008
Chromosome Location	chr7:101578990-101578991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101569775..101571277-chr7:101578145..101580741,2	MCF-7	breast:
2	chr7:101565825..101568824-chr7:101578278..101580561,2	MCF-7	breast:
3	chr7:101557512..101560612-chr7:101577165..101580347,3	K562	blood:
4	chr7:101577286..101579411-chr7:101581063..101582726,2	K562	blood:
5	chr7:101546518..101548364-chr7:101578144..101580587,2	K562	blood:
6	chr7:101572642..101575304-chr7:101578177..101580367,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10231075	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10236615	0.92[ASN][1000 genomes]
rs10238938	0.82[ASN][1000 genomes]
rs10254769	0.82[ASN][1000 genomes]
rs10267777	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276057	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12533258	1.00[ASN][1000 genomes]
rs2031085	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6465838	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6465839	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7785266	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7791278	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7796818	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796995	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7810922	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9969318	0.83[AMR][1000 genomes];0.92[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	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv482846	chr7:101539981-101707666	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv888827	chr7:101562674-101650302	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101544200-101579800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:101561200-101584000	Weak transcription	Hela-S3	cervix
3	chr7:101561800-101579200	Weak transcription	NHEK	skin
4	chr7:101562000-101583600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr7:101566200-101579000	Weak transcription	Spleen	Spleen
6	chr7:101567000-101596000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:101567200-101579200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:101570000-101579000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:101570200-101579600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:101570200-101597000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:101571600-101587400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:101573000-101580000	Weak transcription	K562	blood
13	chr7:101573800-101579000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:101574000-101579200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:101574600-101579200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:101574600-101579600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:101574600-101579800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:101574800-101579200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr7:101575200-101579200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr7:101575400-101579600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr7:101575800-101580000	Weak transcription	HSMM	muscle
22	chr7:101575800-101587400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr7:101576000-101579000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:101576800-101580800	Enhancers	Fetal Intestine Large	intestine
25	chr7:101577000-101579800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:101577000-101580000	Enhancers	Primary B cells from peripheral blood	blood
27	chr7:101577000-101580000	Enhancers	Fetal Heart	heart
28	chr7:101577200-101579600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr7:101577200-101579600	Enhancers	Fetal Stomach	stomach
30	chr7:101577200-101579800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:101577200-101580800	Enhancers	Fetal Lung	lung
32	chr7:101577200-101580800	Enhancers	Stomach Mucosa	stomach
33	chr7:101577200-101584000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:101577400-101579600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:101577600-101579200	Enhancers	GM12878-XiMat	blood
36	chr7:101577600-101579800	Enhancers	Brain Cingulate Gyrus	brain
37	chr7:101577600-101583600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:101577600-101595600	Weak transcription	Primary T cells from cord blood	blood
39	chr7:101577800-101579000	Enhancers	Fetal Muscle Trunk	muscle
40	chr7:101577800-101579200	Enhancers	Brain Hippocampus Middle	brain
41	chr7:101577800-101579200	Enhancers	Right Ventricle	heart
42	chr7:101577800-101579400	Enhancers	H9 Cell Line	embryonic stem cell
43	chr7:101577800-101579600	Enhancers	Brain Angular Gyrus	brain
44	chr7:101577800-101579600	Enhancers	Left Ventricle	heart
45	chr7:101577800-101579600	Enhancers	Pancreas	Pancrea
46	chr7:101577800-101579600	Enhancers	Psoas Muscle	Psoas
47	chr7:101577800-101579800	Enhancers	Lung	lung
48	chr7:101577800-101580400	Enhancers	Gastric	stomach
49	chr7:101577800-101580600	Enhancers	Placenta	Placenta
50	chr7:101577800-101580800	Enhancers	Fetal Muscle Leg	muscle

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