Variant report

Variant	rs61743961
Chromosome Location	chr1:63113968-63113969
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17123771	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58433878	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6676546	0.83[AMR][1000 genomes]
rs72913238	0.81[AFR][1000 genomes]
rs72915127	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72915134	1.00[AMR][1000 genomes]
rs72915136	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7533847	0.90[AFR][1000 genomes];1.00[AMR][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	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63082200-63121000	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr1:63082800-63132600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:63083400-63119000	Weak transcription	Fetal Thymus	thymus
4	chr1:63084800-63121000	Weak transcription	Small Intestine	intestine
5	chr1:63088000-63134600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:63096200-63121000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:63096400-63114000	Weak transcription	Spleen	Spleen
8	chr1:63096800-63129400	Weak transcription	Esophagus	oesophagus
9	chr1:63097800-63115400	Weak transcription	Colonic Mucosa	Colon
10	chr1:63098000-63121400	Weak transcription	HUVEC	blood vessel
11	chr1:63099600-63122800	Weak transcription	Brain Angular Gyrus	brain
12	chr1:63099600-63137000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:63106200-63114000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:63106200-63115200	Strong transcription	HepG2	liver
15	chr1:63107200-63120400	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:63107200-63121000	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:63107200-63122600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:63107200-63122600	Weak transcription	Gastric	stomach
19	chr1:63107400-63117600	Weak transcription	Brain Substantia Nigra	brain
20	chr1:63107400-63118600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:63107400-63119400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:63107400-63119800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:63107400-63120800	Weak transcription	Thymus	Thymus
24	chr1:63107400-63121400	Weak transcription	HSMMtube	muscle
25	chr1:63107400-63122400	Weak transcription	Left Ventricle	heart
26	chr1:63107400-63122800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:63107400-63122800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:63107400-63122800	Weak transcription	Lung	lung
29	chr1:63107400-63124800	Weak transcription	Right Ventricle	heart
30	chr1:63107400-63129600	Weak transcription	NHLF	lung
31	chr1:63107400-63132200	Weak transcription	Brain Germinal Matrix	brain
32	chr1:63107400-63151200	Weak transcription	Pancreas	Pancrea
33	chr1:63107600-63147800	Weak transcription	NHEK	skin
34	chr1:63108200-63120200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:63108400-63114000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:63108600-63114000	Strong transcription	NHDF-Ad	bronchial
37	chr1:63108800-63151200	Weak transcription	Fetal Stomach	stomach
38	chr1:63109000-63124200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:63109000-63130600	Weak transcription	Fetal Intestine Small	intestine
40	chr1:63109000-63147800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:63109200-63114000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:63109200-63117200	Weak transcription	Fetal Kidney	kidney
43	chr1:63109200-63143000	Weak transcription	Fetal Muscle Leg	muscle
44	chr1:63109200-63150200	Weak transcription	Fetal Brain Male	brain
45	chr1:63109400-63118800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:63109400-63120400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:63109400-63121800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:63109600-63121200	Weak transcription	Psoas Muscle	Psoas
49	chr1:63110200-63126200	Weak transcription	NH-A	brain
50	chr1:63110200-63140800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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