Variant report

Variant	rs10923883
Chromosome Location	chr1:120203217-120203218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120190883..120191708-chr1:120202673..120203521,2	MCF-7	breast:
2	chr1:120202631..120203644-chr1:120217187..120218365,3	K562	blood:
3	chr1:120201333..120204049-chr1:120254351..120256217,2	MCF-7	breast:
4	chr1:120188763..120191080-chr1:120201790..120203315,2	K562	blood:
5	chr1:120188687..120197065-chr1:120197482..120205927,19	MCF-7	breast:
6	chr1:120187998..120191080-chr1:120201790..120203947,3	K562	blood:

Variant related genes	Relation type
ENSG00000143067	Chromatin interaction
ENSG00000092621	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12091329	1.00[ASN][1000 genomes]
rs12095134	1.00[ASN][1000 genomes]
rs17024064	1.00[ASN][1000 genomes]
rs17024124	1.00[ASN][1000 genomes]
rs2363498	1.00[ASN][1000 genomes]
rs56187249	1.00[ASN][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	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2757749	chr1:120016696-120214577	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv2758964	chr1:120016696-120214577	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120199400-120204600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:120201600-120203800	Enhancers	Fetal Lung	lung
3	chr1:120202000-120203400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:120202000-120203600	Enhancers	Fetal Kidney	kidney
5	chr1:120202000-120203800	Enhancers	Fetal Stomach	stomach
6	chr1:120202000-120206000	Enhancers	Fetal Intestine Small	intestine
7	chr1:120202200-120203400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:120202200-120203400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:120202200-120203400	Enhancers	Fetal Muscle Leg	muscle
10	chr1:120202200-120203400	Enhancers	Placenta	Placenta
11	chr1:120202200-120203400	Enhancers	Small Intestine	intestine
12	chr1:120202200-120203600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:120202200-120204200	Enhancers	GM12878-XiMat	blood
14	chr1:120202200-120205000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:120202200-120205400	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:120202200-120206000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr1:120202200-120206200	Enhancers	Fetal Intestine Large	intestine
18	chr1:120202400-120203400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:120202400-120203600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:120202400-120203800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr1:120202400-120203800	Enhancers	Stomach Mucosa	stomach
22	chr1:120202600-120203400	Enhancers	Colon Smooth Muscle	Colon
23	chr1:120202600-120204000	Enhancers	HepG2	liver
24	chr1:120202600-120204200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:120202600-120206600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:120202800-120203600	Weak transcription	Pancreas	Pancrea
27	chr1:120202800-120203800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:120202800-120204000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:120202800-120204400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:120202800-120206400	Weak transcription	Ovary	ovary
31	chr1:120203000-120203400	Flanking Active TSS	Liver	Liver
32	chr1:120203000-120203400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr1:120203000-120204600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:120203000-120204800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:120203000-120205600	Weak transcription	Fetal Heart	heart
36	chr1:120203200-120203400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:120203200-120203600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr1:120203200-120203800	Enhancers	Gastric	stomach

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