Variant report

Variant	rs2746073
Chromosome Location	chr1:192779227-192779228
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:192776599..192779563-chr1:193090962..193092551,2	K562	blood:
2	chr1:192775115..192776767-chr1:192778310..192780018,2	K562	blood:
3	chr1:192777293..192779700-chr1:193028238..193029983,2	K562	blood:
4	chr1:192777305..192779700-chr1:193027165..193029983,2	K562	blood:

Variant related genes	Relation type
ENSG00000116747	Chromatin interaction
ENSG00000116750	Chromatin interaction
ENSG00000134371	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10737617	0.82[ASN][1000 genomes]
rs10737618	0.91[ASN][1000 genomes]
rs10754031	0.91[ASN][1000 genomes]
rs10801151	0.91[CEU][hapmap];0.80[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10801152	0.81[CEU][hapmap];0.92[EUR][1000 genomes]
rs10801153	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10801154	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10801156	0.98[EUR][1000 genomes]
rs10801157	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10801158	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10921265	0.91[ASN][1000 genomes]
rs10921267	0.90[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10921268	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11586572	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12565835	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1418718	0.90[CEU][hapmap];0.92[EUR][1000 genomes]
rs16834851	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1819741	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1933694	0.82[ASN][1000 genomes]
rs2746071	0.90[CEU][hapmap];0.93[EUR][1000 genomes]
rs2746072	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3856223	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4128057	0.82[ASN][1000 genomes]
rs6428136	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6669632	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6670129	0.82[ASN][1000 genomes]
rs6670801	0.83[ASN][1000 genomes]
rs6670806	0.83[ASN][1000 genomes]
rs6684156	0.92[EUR][1000 genomes]
rs7525778	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7546861	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7549721	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192776200-192780600	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr1:192776400-192779400	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr1:192776400-192779400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr1:192776400-192779600	Active TSS	Brain Cingulate Gyrus	brain
5	chr1:192776400-192779800	Active TSS	Ovary	ovary
6	chr1:192776400-192779800	Active TSS	Stomach Mucosa	stomach
7	chr1:192776400-192780600	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr1:192776400-192780600	Active TSS	Aorta	Aorta
9	chr1:192776400-192781200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr1:192776600-192779800	Active TSS	Colonic Mucosa	Colon
11	chr1:192776800-192779600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:192777000-192780000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:192777000-192781200	ZNF genes & repeats	Fetal Brain Male	brain
14	chr1:192777200-192779400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:192777200-192779400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:192777200-192779400	Active TSS	Fetal Brain Female	brain
17	chr1:192777200-192779800	Active TSS	Pancreas	Pancrea
18	chr1:192777200-192780000	Active TSS	Fetal Muscle Trunk	muscle
19	chr1:192777400-192779400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr1:192777400-192779400	Active TSS	Brain Anterior Caudate	brain
21	chr1:192777400-192779400	Active TSS	Esophagus	oesophagus
22	chr1:192777400-192779400	Active TSS	Left Ventricle	heart
23	chr1:192777400-192779600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:192777400-192779600	Active TSS	Small Intestine	intestine
25	chr1:192777400-192779600	Active TSS	NHDF-Ad	bronchial
26	chr1:192777400-192779800	Active TSS	Brain Substantia Nigra	brain
27	chr1:192777400-192779800	Active TSS	Placenta Amnion	Placenta Amnion
28	chr1:192777400-192779800	Active TSS	Right Ventricle	heart
29	chr1:192777600-192779400	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr1:192777600-192779400	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr1:192777600-192779400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:192777600-192779400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:192777600-192779400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:192777600-192779400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:192777600-192779400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:192777600-192779400	Active TSS	Brain Hippocampus Middle	brain
37	chr1:192777600-192779400	Active TSS	Fetal Intestine Large	intestine
38	chr1:192777600-192779400	Active TSS	Fetal Muscle Leg	muscle
39	chr1:192777600-192779400	Active TSS	NHLF	lung
40	chr1:192777600-192779600	Active TSS	H9 Cell Line	embryonic stem cell
41	chr1:192777600-192779600	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr1:192777600-192779600	Active TSS	Fetal Kidney	kidney
43	chr1:192777600-192779600	Active TSS	Lung	lung
44	chr1:192777600-192779600	Active TSS	HSMMtube	muscle
45	chr1:192777600-192779800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:192777600-192779800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:192777600-192779800	Active TSS	Psoas Muscle	Psoas
48	chr1:192777600-192779800	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr1:192777600-192779800	Active TSS	Spleen	Spleen
50	chr1:192777600-192780000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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