Variant report

Variant	rs233052
Chromosome Location	chr1:85838470-85838471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85832497..85835404-chr1:85838453..85841129,2	K562	blood:
2	chr1:85836816..85838339-chr1:85838426..85841342,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10489511	0.92[AFR][1000 genomes]
rs10747319	1.00[AFR][1000 genomes]
rs10747320	1.00[AFR][1000 genomes]
rs11161608	1.00[AFR][1000 genomes]
rs2124138	1.00[AFR][1000 genomes]
rs34102729	1.00[AFR][1000 genomes]
rs7526667	1.00[AFR][1000 genomes]
rs7532994	1.00[AFR][1000 genomes]
rs7552422	1.00[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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85814200-85839600	Weak transcription	Left Ventricle	heart
2	chr1:85816000-85839600	Weak transcription	Pancreas	Pancrea
3	chr1:85825000-85839000	Weak transcription	Aorta	Aorta
4	chr1:85826200-85838800	Weak transcription	Hela-S3	cervix
5	chr1:85827200-85839000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:85827400-85839400	Weak transcription	Fetal Intestine Large	intestine
7	chr1:85828000-85838800	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:85829600-85839000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:85832800-85838800	Weak transcription	HSMMtube	muscle
10	chr1:85832800-85839600	Weak transcription	HMEC	breast
11	chr1:85833400-85839000	Weak transcription	NH-A	brain
12	chr1:85834200-85839000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:85834400-85839800	Weak transcription	Stomach Mucosa	stomach
14	chr1:85834800-85838600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:85834800-85841600	Weak transcription	Fetal Intestine Small	intestine
16	chr1:85834800-85844200	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:85835800-85839800	Weak transcription	Right Ventricle	heart
18	chr1:85836000-85839000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:85836000-85839000	Weak transcription	Psoas Muscle	Psoas
20	chr1:85836000-85840400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:85836200-85838800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:85836400-85839000	Weak transcription	NHDF-Ad	bronchial
23	chr1:85836600-85840400	Enhancers	Liver	Liver
24	chr1:85836800-85838800	Enhancers	Adipose Nuclei	Adipose
25	chr1:85836800-85843000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:85837000-85838800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:85837000-85839000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:85837000-85839800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:85837000-85840200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:85837200-85839000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:85837200-85839400	Weak transcription	HepG2	liver
32	chr1:85837200-85842400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:85837400-85840400	Enhancers	HSMM	muscle
34	chr1:85837600-85839000	Weak transcription	Brain Anterior Caudate	brain
35	chr1:85837800-85838800	Enhancers	Osteobl	bone
36	chr1:85837800-85840000	Enhancers	Fetal Lung	lung
37	chr1:85837800-85840200	Enhancers	Fetal Stomach	stomach
38	chr1:85837800-85842200	Enhancers	Rectal Smooth Muscle	rectum
39	chr1:85838000-85839000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:85838000-85839000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:85838000-85840200	Enhancers	NHLF	lung
42	chr1:85838200-85838600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:85838200-85842800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:85838400-85838600	Enhancers	Fetal Brain Female	brain
45	chr1:85838400-85838800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr1:85838400-85839000	Flanking Active TSS	A549	lung
47	chr1:85838400-85839200	Enhancers	Duodenum Mucosa	Duodenum
48	chr1:85838400-85839400	Enhancers	Small Intestine	intestine
49	chr1:85838400-85839800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:85838400-85840000	Enhancers	HUES6 Cell Line	embryonic stem cell

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