Variant report

Variant	rs60630831
Chromosome Location	chr1:9433233-9433234
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9431115..9433749-chr1:9440767..9442429,2	K562	blood:
2	chr1:9431486..9433637-chr1:9435524..9437714,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs74051644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74051646	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931984	chr1:8879337-9694749	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	570 gene(s)	inside rSNPs	diseases
2	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
3	esv3345013	chr1:9237327-9475707	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1014844	chr1:9326748-9441033	Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv870719	chr1:9349938-9441040	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv871098	chr1:9371099-9469114	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1003190	chr1:9382452-9554553	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv534850	chr1:9382452-9554553	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9405000-9435200	Weak transcription	Psoas Muscle	Psoas
2	chr1:9417000-9444800	Weak transcription	Hela-S3	cervix
3	chr1:9422000-9442200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:9423600-9433800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:9426400-9435800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:9427600-9433600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:9428800-9437400	Weak transcription	Liver	Liver
8	chr1:9429600-9438000	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:9429800-9438600	Enhancers	Colon Smooth Muscle	Colon
10	chr1:9430000-9433600	Weak transcription	Brain Anterior Caudate	brain
11	chr1:9430000-9434400	Weak transcription	Gastric	stomach
12	chr1:9430200-9435200	Weak transcription	Right Ventricle	heart
13	chr1:9430400-9435600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:9430400-9435800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:9430400-9435800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:9430600-9433600	Enhancers	Fetal Kidney	kidney
17	chr1:9430600-9433600	Weak transcription	A549	lung
18	chr1:9430600-9434200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:9430800-9434600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:9430800-9435200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:9430800-9436400	Weak transcription	Osteobl	bone
22	chr1:9430800-9437200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:9431000-9433400	Enhancers	Fetal Intestine Large	intestine
24	chr1:9431200-9434600	Enhancers	HUVEC	blood vessel
25	chr1:9431400-9433800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr1:9431400-9434400	Enhancers	Lung	lung
27	chr1:9431600-9433400	Enhancers	Ovary	ovary
28	chr1:9431600-9434800	Enhancers	Esophagus	oesophagus
29	chr1:9431800-9435600	Weak transcription	NHDF-Ad	bronchial
30	chr1:9431800-9437200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:9432000-9433400	Enhancers	Fetal Thymus	thymus
32	chr1:9432000-9433600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:9432000-9434800	Weak transcription	Fetal Heart	heart
34	chr1:9432000-9435600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:9432000-9435600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:9432200-9433400	Genic enhancers	Fetal Intestine Small	intestine
37	chr1:9432200-9433400	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr1:9432200-9433600	Strong transcription	Dnd41	blood
39	chr1:9432200-9433600	Strong transcription	NHLF	lung
40	chr1:9432200-9433800	Weak transcription	Small Intestine	intestine
41	chr1:9432200-9434000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:9432200-9434000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:9432200-9434000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:9432200-9435800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:9432400-9433400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:9432400-9433600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:9432400-9433600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:9432400-9434200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr1:9432400-9435000	Weak transcription	Right Atrium	heart
50	chr1:9432400-9435200	Weak transcription	Left Ventricle	heart

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