Variant report

Variant	rs17688601
Chromosome Location	chr7:40866663-40866664
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1012567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1012568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12701838	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13230202	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17621020	1.00[YRI][hapmap]
rs17621117	1.00[YRI][hapmap]
rs17621345	0.95[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.81[MKK][hapmap];0.84[EUR][1000 genomes]
rs17688247	1.00[LWK][hapmap]
rs17688571	1.00[LWK][hapmap]
rs17688583	1.00[ASW][hapmap];1.00[CEU][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];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830972	chr7:40814709-40945917	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1827128	chr7:40862370-40886576	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40862200-40867800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:40862200-40868200	Enhancers	HMEC	breast
3	chr7:40863400-40867800	Enhancers	NHEK	skin
4	chr7:40863600-40867600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:40863800-40867400	Enhancers	Aorta	Aorta
6	chr7:40864000-40869000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:40864000-40869600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:40864000-40871000	Enhancers	NHDF-Ad	bronchial
9	chr7:40865000-40867600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:40865200-40866800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:40865200-40866800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:40865200-40866800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:40865400-40866800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr7:40865400-40867200	Enhancers	Brain Substantia Nigra	brain
15	chr7:40865400-40868200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:40865600-40866800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:40865600-40866800	Enhancers	HSMMtube	muscle
18	chr7:40865600-40867000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr7:40865600-40867600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:40865600-40868600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:40865800-40867600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:40865800-40867800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:40865800-40868000	Enhancers	NH-A	brain
24	chr7:40866000-40867200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:40866000-40867200	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr7:40866000-40867200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr7:40866000-40867400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr7:40866000-40867400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:40866000-40867400	Enhancers	NHLF	lung
30	chr7:40866000-40867600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:40866000-40867600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr7:40866000-40867600	Enhancers	Brain Hippocampus Middle	brain
33	chr7:40866000-40867800	Enhancers	Hela-S3	cervix
34	chr7:40866000-40867800	Enhancers	HSMM	muscle
35	chr7:40866000-40868000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr7:40866000-40868000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:40866000-40868000	Enhancers	Fetal Muscle Leg	muscle
38	chr7:40866000-40868400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr7:40866000-40868600	Enhancers	Adipose Nuclei	Adipose
40	chr7:40866200-40867200	Enhancers	HepG2	liver
41	chr7:40866200-40867200	Flanking Active TSS	Osteobl	bone
42	chr7:40866200-40867600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:40866200-40867600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:40866200-40867600	Enhancers	Fetal Kidney	kidney
45	chr7:40866200-40867600	Enhancers	Fetal Stomach	stomach
46	chr7:40866200-40867600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr7:40866200-40867800	Enhancers	H9 Cell Line	embryonic stem cell
48	chr7:40866200-40867800	Enhancers	Fetal Intestine Large	intestine
49	chr7:40866200-40868000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:40866200-40868000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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