Variant report

Variant	rs6748979
Chromosome Location	chr2:55644989-55644990
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55643936..55648492-chr2:55843198..55848689,6	K562	blood:
2	chr1:8938311..8940661-chr2:55644553..55646968,2	K562	blood:
3	chr2:55644452..55648722-chr2:55843350..55848689,7	K562	blood:
4	chr2:55496544..55498355-chr2:55643954..55646229,2	K562	blood:

Variant related genes	Relation type
ENSG00000074800	Chromatin interaction
ENSG00000272606	Chromatin interaction
ENSG00000138041	Chromatin interaction
ENSG00000230679	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10182704	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10184756	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10195081	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10454144	0.88[EUR][1000 genomes]
rs11125565	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11125566	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11125572	0.93[ASN][1000 genomes]
rs12612806	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12617891	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12618216	0.92[ASN][1000 genomes]
rs12618795	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12623954	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713297	0.86[ASN][1000 genomes]
rs13416912	0.84[EUR][1000 genomes]
rs1454415	0.98[ASN][1000 genomes]
rs1454419	1.00[ASN][1000 genomes]
rs1454420	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1454423	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1454424	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1545554	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1902056	0.93[EUR][1000 genomes]
rs1902057	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1902058	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1902061	0.90[ASN][1000 genomes]
rs1902062	0.82[ASN][1000 genomes]
rs2045132	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2045133	0.93[EUR][1000 genomes]
rs2045134	0.96[ASN][1000 genomes]
rs2045135	0.98[ASN][1000 genomes]
rs2045136	0.91[ASN][1000 genomes]
rs2123983	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2219130	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2576688	0.90[EUR][1000 genomes]
rs2576703	0.90[EUR][1000 genomes]
rs2589057	0.90[EUR][1000 genomes]
rs2589068	0.90[EUR][1000 genomes]
rs2589069	0.90[EUR][1000 genomes]
rs2589070	0.90[EUR][1000 genomes]
rs2589078	0.90[EUR][1000 genomes]
rs2589079	0.90[EUR][1000 genomes]
rs2589104	0.90[EUR][1000 genomes]
rs2864831	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2864832	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2867173	0.90[EUR][1000 genomes]
rs2867178	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2867179	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2867194	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2902857	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2903507	0.93[EUR][1000 genomes]
rs2903509	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2903514	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2917777	0.90[EUR][1000 genomes]
rs2920970	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2966466	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3099080	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3099081	0.90[EUR][1000 genomes]
rs3099083	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3111408	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3111409	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3748943	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762511	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3974263	0.90[EUR][1000 genomes]
rs4233960	0.90[EUR][1000 genomes]
rs4233961	0.93[EUR][1000 genomes]
rs4277563	0.98[ASN][1000 genomes]
rs4481025	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4535081	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4672032	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4672033	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4672036	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4672037	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4672038	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4672040	0.98[ASN][1000 genomes]
rs4672041	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4672043	0.93[ASN][1000 genomes]
rs4672044	0.93[ASN][1000 genomes]
rs59634508	0.90[EUR][1000 genomes]
rs61157332	0.90[EUR][1000 genomes]
rs6545489	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6545490	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6545491	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6545492	0.98[ASN][1000 genomes]
rs6709204	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6710192	0.93[EUR][1000 genomes]
rs6718031	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6718909	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6720698	0.97[ASN][1000 genomes]
rs6721593	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6724840	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6725968	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6729490	0.83[AFR][1000 genomes]
rs6732633	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6732759	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6733814	0.98[ASN][1000 genomes]
rs6744426	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72924907	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7424286	0.94[ASN][1000 genomes]
rs7557555	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7557956	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7579037	0.98[ASN][1000 genomes]
rs7586440	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7601588	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7602189	0.98[ASN][1000 genomes]
rs7606361	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55591000-55646000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:55624400-55645600	Weak transcription	Ovary	ovary
3	chr2:55628600-55646000	Weak transcription	Esophagus	oesophagus
4	chr2:55630400-55645800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:55630800-55645200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:55630800-55645200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:55631000-55645400	Weak transcription	Placenta	Placenta
8	chr2:55631800-55645200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:55632600-55645800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:55632800-55645800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:55633000-55645000	Weak transcription	Liver	Liver
12	chr2:55633000-55645800	Weak transcription	Fetal Intestine Small	intestine
13	chr2:55633000-55645800	Weak transcription	Spleen	Spleen
14	chr2:55633000-55646000	Weak transcription	Lung	lung
15	chr2:55636800-55645600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:55637400-55645000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:55639800-55645600	Weak transcription	Aorta	Aorta
18	chr2:55639800-55645800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:55640000-55645600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:55640200-55645800	Weak transcription	Left Ventricle	heart
21	chr2:55640400-55645600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:55640600-55645400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:55640800-55646000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:55641000-55645600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:55641000-55645600	Weak transcription	Thymus	Thymus
26	chr2:55642600-55646600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:55642600-55648200	Active TSS	GM12878-XiMat	blood
28	chr2:55642800-55645800	Weak transcription	Pancreas	Pancrea
29	chr2:55643000-55645000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:55643000-55645600	Weak transcription	Right Ventricle	heart
31	chr2:55643000-55648000	Active TSS	Brain Germinal Matrix	brain
32	chr2:55643200-55645000	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:55643200-55647600	Active TSS	K562	blood
34	chr2:55643200-55648000	Active TSS	Fetal Brain Female	brain
35	chr2:55643200-55648200	Active TSS	Brain Cingulate Gyrus	brain
36	chr2:55643200-55648200	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr2:55643600-55647600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:55643800-55645400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:55643800-55645400	Flanking Active TSS	Dnd41	blood
40	chr2:55643800-55645400	Flanking Active TSS	HUVEC	blood vessel
41	chr2:55643800-55645800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:55643800-55646200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr2:55643800-55648000	Active TSS	NHDF-Ad	bronchial
44	chr2:55643800-55648400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:55643800-55648400	Active TSS	NHLF	lung
46	chr2:55644000-55645200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr2:55644000-55645800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:55644000-55646600	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr2:55644000-55646600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:55644000-55647400	Active TSS	HMEC	breast

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