Variant report

Variant	rs233044
Chromosome Location	chr1:85828840-85828841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85823950..85826978-chr1:85828513..85831070,3	K562	blood:
2	chr1:85827968..85830581-chr1:85830852..85832881,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11805470	0.82[LWK][hapmap];0.85[MKK][hapmap]
rs17126044	0.85[MKK][hapmap]
rs182845	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs20862	0.90[AFR][1000 genomes]
rs233043	1.00[ASW][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233063	0.90[AFR][1000 genomes]
rs233064	0.92[ASW][hapmap];0.96[LWK][hapmap];0.97[MKK][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes]
rs233083	1.00[AMR][1000 genomes]
rs233084	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233085	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233086	1.00[AMR][1000 genomes]
rs233088	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233090	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233122	0.92[ASW][hapmap];0.96[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs233126	0.86[AFR][1000 genomes]
rs233129	0.90[AFR][1000 genomes]
rs2474121	0.92[ASW][hapmap];0.96[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85809200-85838400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:85814200-85839600	Weak transcription	Left Ventricle	heart
3	chr1:85816000-85831400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:85816000-85839600	Weak transcription	Pancreas	Pancrea
5	chr1:85816400-85829000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:85816600-85836800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:85823200-85836800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:85824400-85833800	Weak transcription	Fetal Intestine Small	intestine
9	chr1:85824600-85829600	Enhancers	NHLF	lung
10	chr1:85825000-85839000	Weak transcription	Aorta	Aorta
11	chr1:85825200-85830400	Enhancers	Osteobl	bone
12	chr1:85825400-85829600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:85825600-85829600	Enhancers	Fetal Lung	lung
14	chr1:85825800-85829000	Enhancers	HSMM	muscle
15	chr1:85826200-85832000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:85826200-85838800	Weak transcription	Hela-S3	cervix
17	chr1:85826400-85831200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:85826800-85829000	Weak transcription	Fetal Brain Female	brain
19	chr1:85826800-85829600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:85826800-85829800	Enhancers	Fetal Stomach	stomach
21	chr1:85826800-85830000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:85826800-85831000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:85827000-85833800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:85827000-85834600	Enhancers	NHDF-Ad	bronchial
25	chr1:85827000-85837800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:85827200-85831400	Weak transcription	Ovary	ovary
27	chr1:85827200-85831400	Weak transcription	HUVEC	blood vessel
28	chr1:85827200-85832200	Weak transcription	HMEC	breast
29	chr1:85827200-85836800	Weak transcription	Adipose Nuclei	Adipose
30	chr1:85827200-85839000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:85827400-85830000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:85827400-85839400	Weak transcription	Fetal Intestine Large	intestine
33	chr1:85827600-85829000	Weak transcription	Fetal Kidney	kidney
34	chr1:85827600-85829000	Weak transcription	A549	lung
35	chr1:85827600-85829000	Weak transcription	HSMMtube	muscle
36	chr1:85827600-85831200	Weak transcription	Small Intestine	intestine
37	chr1:85827600-85831600	Weak transcription	NH-A	brain
38	chr1:85827600-85836800	Weak transcription	HepG2	liver
39	chr1:85827800-85832000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:85828000-85829400	Enhancers	Fetal Brain Male	brain
41	chr1:85828000-85829600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:85828000-85829600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr1:85828000-85829600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr1:85828000-85838800	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:85828200-85830200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:85828400-85831600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:85828800-85829000	Enhancers	Brain Cingulate Gyrus	brain
48	chr1:85828800-85829200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:85828800-85829400	Enhancers	Brain Anterior Caudate	brain
50	chr1:85828800-85829400	Enhancers	Fetal Muscle Leg	muscle

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