Variant report

Variant	rs4233385
Chromosome Location	chr1:162047745-162047746
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:162047420..162049461-chr1:162050516..162052410,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11579080	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs4656348	0.88[AFR][1000 genomes]
rs4656349	0.93[YRI][hapmap];0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv831747	chr1:161926367-162103311	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv1821140	chr1:162047541-162389040	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:162041200-162050200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:162041400-162063600	Weak transcription	Fetal Stomach	stomach
3	chr1:162042400-162049200	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:162042400-162050200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:162042600-162050400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:162042600-162051000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:162042600-162052000	Weak transcription	Fetal Kidney	kidney
8	chr1:162044800-162050200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:162044800-162050400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:162044800-162056600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:162045000-162050200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:162045000-162056200	Weak transcription	Liver	Liver
13	chr1:162045400-162048400	Weak transcription	Fetal Brain Female	brain
14	chr1:162045400-162048600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:162045400-162049400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:162046000-162048000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:162046000-162050800	Weak transcription	HepG2	liver
18	chr1:162046800-162051200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:162047000-162047800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:162047200-162047800	Enhancers	Fetal Heart	heart
21	chr1:162047200-162048000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr1:162047400-162047800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr1:162047400-162047800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr1:162047400-162047800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr1:162047400-162047800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:162047400-162047800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:162047400-162048000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:162047400-162048000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:162047400-162048000	Enhancers	Aorta	Aorta
30	chr1:162047400-162048000	Enhancers	Brain Germinal Matrix	brain
31	chr1:162047400-162048000	Enhancers	Right Ventricle	heart
32	chr1:162047400-162048000	Enhancers	Stomach Mucosa	stomach
33	chr1:162047400-162048000	Enhancers	Hela-S3	cervix
34	chr1:162047400-162048200	Enhancers	Fetal Brain Male	brain
35	chr1:162047400-162048400	Enhancers	Gastric	stomach
36	chr1:162047400-162048800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr1:162047600-162047800	Enhancers	Right Atrium	heart
38	chr1:162047600-162048000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr1:162047600-162048000	Enhancers	Pancreas	Pancrea
40	chr1:162047600-162048800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr1:162047600-162048800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:162047600-162048800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr1:162047600-162050600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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