Variant report

Variant	rs67768103
Chromosome Location	chr1:93648525-93648526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93646436..93648655-chr1:93649128..93651359,3	MCF-7	breast:
2	chr1:93543004..93547095-chr1:93643826..93649088,10	K562	blood:
3	chr1:93543004..93547588-chr1:93644888..93649088,6	K562	blood:
4	chr1:93646277..93649734-chr1:93664673..93670683,6	K562	blood:
5	chr1:93647936..93650476-chr1:93658856..93662107,3	K562	blood:
6	chr1:93644831..93648972-chr1:93800687..93805034,4	K562	blood:

Variant related genes	Relation type
ENSG00000225297	Chromatin interaction
ENSG00000143033	Chromatin interaction
ENSG00000223745	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1064797	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11164922	0.81[EUR][1000 genomes]
rs12404947	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12405666	0.97[EUR][1000 genomes]
rs12409621	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12411095	0.81[EUR][1000 genomes]
rs17131703	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17131705	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17131709	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17131710	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17131718	0.81[EUR][1000 genomes]
rs17131741	0.81[EUR][1000 genomes]
rs17386609	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2749734	0.92[EUR][1000 genomes]
rs2785602	0.92[EUR][1000 genomes]
rs2785605	0.92[EUR][1000 genomes]
rs2815419	0.92[EUR][1000 genomes]
rs2815423	0.92[EUR][1000 genomes]
rs2815424	0.94[EUR][1000 genomes]
rs41286823	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41292137	1.00[EUR][1000 genomes]
rs4240965	0.85[EUR][1000 genomes]
rs4347219	0.97[EUR][1000 genomes]
rs475120	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs488345	0.94[EUR][1000 genomes]
rs495580	0.94[EUR][1000 genomes]
rs500349	0.94[EUR][1000 genomes]
rs502651	0.83[EUR][1000 genomes]
rs519319	0.94[EUR][1000 genomes]
rs539544	0.92[EUR][1000 genomes]
rs548751	0.94[EUR][1000 genomes]
rs571439	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs574687	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57992499	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs580828	0.92[EUR][1000 genomes]
rs60013975	0.81[EUR][1000 genomes]
rs60458375	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61101021	0.81[EUR][1000 genomes]
rs61433067	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6604042	0.95[EUR][1000 genomes]
rs66501175	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66804824	0.81[EUR][1000 genomes]
rs6689007	0.94[EUR][1000 genomes]
rs67002303	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6703169	0.91[EUR][1000 genomes]
rs67262037	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67337461	1.00[EUR][1000 genomes]
rs67395827	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67711178	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67723709	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67992203	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67998457	0.81[EUR][1000 genomes]
rs72715364	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72715394	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72717318	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72717334	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717337	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72717346	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72717352	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717354	0.97[EUR][1000 genomes]
rs72717374	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72719120	1.00[EUR][1000 genomes]
rs72955366	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72955388	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72959223	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72959288	1.00[EUR][1000 genomes]
rs72959296	0.97[EUR][1000 genomes]
rs797594	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93646600-93660400	Weak transcription	Lung	lung
2	chr1:93646800-93648600	Flanking Active TSS	Dnd41	blood
3	chr1:93646800-93664600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:93647000-93663600	Weak transcription	Fetal Stomach	stomach
5	chr1:93647000-93664600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:93647000-93688000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:93647000-93688600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:93647000-93756400	Weak transcription	Gastric	stomach
9	chr1:93647200-93648800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:93647200-93649200	Enhancers	HepG2	liver
11	chr1:93647200-93650200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:93647200-93650400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:93647200-93650600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:93647200-93651600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:93647200-93652400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:93647200-93654200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:93647200-93657600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:93647200-93658000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:93647200-93660400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:93647200-93660400	Weak transcription	Thymus	Thymus
21	chr1:93647200-93660800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:93647200-93661400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:93647200-93664200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:93647200-93664200	Weak transcription	Fetal Intestine Small	intestine
25	chr1:93647200-93664400	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:93647200-93664600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:93647200-93664600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:93647200-93667600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:93647200-93667600	Weak transcription	Adipose Nuclei	Adipose
30	chr1:93647200-93668200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:93647200-93681200	Weak transcription	HUVEC	blood vessel
32	chr1:93647200-93684400	Weak transcription	NH-A	brain
33	chr1:93647200-93685000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:93647200-93707400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:93647200-93757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:93647400-93650400	Weak transcription	Fetal Thymus	thymus
37	chr1:93647400-93659000	Weak transcription	HSMM	muscle
38	chr1:93647400-93661000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:93647400-93664800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:93647400-93667400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr1:93647600-93648800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:93647600-93648800	Enhancers	Hela-S3	cervix
43	chr1:93647600-93650200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr1:93647600-93650200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:93647600-93652000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:93647600-93654400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:93647600-93657600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:93647600-93657800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:93647600-93660400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr1:93647600-93664400	Weak transcription	NHLF	lung

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