Variant report

Variant	rs17616983
Chromosome Location	chr7:121776173-121776174
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:121775168-121778230	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD1	chr7:121776148-121776349	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:121776110-121777215	H1-hESC	embryonic stem cell:	n/a	n/a
4	MYC	chr7:121776051-121776405	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121768771..121771920-chr7:121774258..121777646,3	K562	blood:

Variant related genes	Relation type
AASS	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10488107	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147489	0.83[ASN][1000 genomes]
rs11977512	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12113399	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12530583	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12538079	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2109333	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2268077	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2300199	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4727938	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57341517	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59110694	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59224714	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59529453	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59993706	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60159595	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61624073	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6948443	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6952698	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6954944	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72499551	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73224332	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224336	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224339	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73226257	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73226277	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73226300	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7784030	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7810763	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][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	nsv427803	chr7:121701581-121876302	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1019004	chr7:121733372-121800380	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1034553	chr7:121734934-121800380	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv608335	chr7:121749963-121779485	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv523632	chr7:121754695-121802068	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1016617	chr7:121770441-121820730	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121743800-121776200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
2	chr7:121744600-121783200	Weak transcription	Lung	lung
3	chr7:121744800-121776800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:121747800-121776200	Weak transcription	Fetal Brain Male	brain
5	chr7:121750000-121776600	Weak transcription	Psoas Muscle	Psoas
6	chr7:121753800-121776200	Weak transcription	NH-A	brain
7	chr7:121755200-121776200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:121755200-121776800	Weak transcription	Aorta	Aorta
9	chr7:121756600-121776600	Weak transcription	Brain Angular Gyrus	brain
10	chr7:121756600-121783000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:121756600-121783200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:121756800-121776200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:121756800-121776200	Weak transcription	HUVEC	blood vessel
14	chr7:121756800-121776600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:121756800-121776800	Weak transcription	Brain Substantia Nigra	brain
16	chr7:121756800-121776800	Weak transcription	Right Ventricle	heart
17	chr7:121756800-121783000	Weak transcription	Fetal Intestine Large	intestine
18	chr7:121757200-121776200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:121757200-121776400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:121757200-121776800	Weak transcription	Pancreas	Pancrea
21	chr7:121757800-121776200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr7:121758400-121776200	Weak transcription	Fetal Kidney	kidney
23	chr7:121758800-121776200	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:121758800-121776200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:121763600-121781200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr7:121764000-121776200	Weak transcription	Adipose Nuclei	Adipose
27	chr7:121765000-121776600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:121766200-121776600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:121766600-121776400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:121768400-121778000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:121768600-121776800	Weak transcription	Left Ventricle	heart
32	chr7:121769200-121776600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:121772400-121776200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:121772400-121776800	Weak transcription	HSMM	muscle
35	chr7:121772600-121777200	Weak transcription	Fetal Heart	heart
36	chr7:121772800-121776600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:121772800-121776800	Weak transcription	Right Atrium	heart
38	chr7:121773000-121776200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:121773000-121776200	Weak transcription	NHDF-Ad	bronchial
40	chr7:121773000-121776200	Weak transcription	NHLF	lung
41	chr7:121773000-121776200	Weak transcription	Osteobl	bone
42	chr7:121773000-121776600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:121773000-121777000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:121773200-121776200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:121773400-121776200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr7:121773600-121776200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:121773800-121776200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:121773800-121779800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:121773800-121781600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:121774000-121776200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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