Variant report

Variant	rs1690764
Chromosome Location	chr1:63049212-63049213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10889346	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168012	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs1168014	1.00[AMR][1000 genomes]
rs1168019	1.00[AMR][1000 genomes]
rs1168033	1.00[AMR][1000 genomes]
rs1168037	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs1168039	1.00[AMR][1000 genomes]
rs1168084	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs1168090	1.00[AMR][1000 genomes]
rs1168092	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168095	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168101	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs1168105	1.00[AMR][1000 genomes]
rs1168123	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168131	0.84[AFR][1000 genomes]
rs1183265	1.00[AMR][1000 genomes]
rs1628350	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs17123733	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1748186	1.00[AMR][1000 genomes]
rs1748191	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs1748193	0.82[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1781194	1.00[AMR][1000 genomes]
rs1781197	1.00[AMR][1000 genomes]
rs2769486	1.00[AMR][1000 genomes]
rs4329539	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs593519	0.88[YRI][hapmap]
rs6587979	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078654	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7515054	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7522249	0.89[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv1011203	chr1:63047046-63081879	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv2762146	chr1:63047058-63049988	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62939800-63060200	Weak transcription	Small Intestine	intestine
2	chr1:62954000-63053400	Weak transcription	Fetal Brain Male	brain
3	chr1:62957800-63050200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:62958200-63061000	Weak transcription	Lung	lung
5	chr1:62994000-63051000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:63000200-63054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:63005600-63050200	Weak transcription	NHLF	lung
8	chr1:63007200-63056200	Weak transcription	Brain Anterior Caudate	brain
9	chr1:63007200-63096200	Weak transcription	HUVEC	blood vessel
10	chr1:63008400-63053200	Weak transcription	Osteobl	bone
11	chr1:63010800-63078400	Weak transcription	A549	lung
12	chr1:63017800-63057600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:63018000-63051200	Weak transcription	Colonic Mucosa	Colon
14	chr1:63019800-63052400	Weak transcription	HMEC	breast
15	chr1:63021600-63058800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:63021600-63061400	Weak transcription	Pancreas	Pancrea
17	chr1:63024400-63053200	Weak transcription	NH-A	brain
18	chr1:63026400-63052200	Weak transcription	Primary B cells from cord blood	blood
19	chr1:63026400-63053400	Weak transcription	Primary T cells from cord blood	blood
20	chr1:63026800-63050200	Weak transcription	HSMMtube	muscle
21	chr1:63027000-63051400	Weak transcription	Placenta	Placenta
22	chr1:63027200-63050400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:63028800-63052800	Weak transcription	Esophagus	oesophagus
24	chr1:63034200-63051000	Weak transcription	HepG2	liver
25	chr1:63035200-63050000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:63035200-63053600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:63036800-63058600	Weak transcription	Fetal Brain Female	brain
28	chr1:63036800-63113600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:63037600-63055000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:63038400-63050200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:63038400-63051000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:63038400-63052200	Weak transcription	GM12878-XiMat	blood
33	chr1:63038400-63054600	Weak transcription	Fetal Kidney	kidney
34	chr1:63038400-63087600	Weak transcription	NHEK	skin
35	chr1:63038400-63095600	Weak transcription	Brain Germinal Matrix	brain
36	chr1:63038600-63050200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr1:63038600-63050400	Weak transcription	Psoas Muscle	Psoas
38	chr1:63038600-63050800	Weak transcription	Liver	Liver
39	chr1:63038600-63051000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:63038600-63052400	Weak transcription	Dnd41	blood
41	chr1:63038600-63083000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:63038800-63053400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:63039000-63050800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:63039000-63063400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:63039200-63095200	Weak transcription	Ovary	ovary
46	chr1:63040400-63052800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr1:63041000-63051000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:63041000-63051000	Weak transcription	Fetal Intestine Small	intestine
49	chr1:63041000-63095200	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:63041000-63095600	Weak transcription	Fetal Stomach	stomach

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