Variant report

Variant	rs4391705
Chromosome Location	chr1:120288740-120288741
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120286920..120290208-chr1:120298529..120301740,3	K562	blood:
2	chr1:120261924..120264165-chr1:120287525..120289595,2	K562	blood:
3	chr1:120286100..120288877-chr1:120290549..120293981,3	K562	blood:
4	chr1:120282346..120286075-chr1:120287322..120291391,4	K562	blood:

Variant related genes	Relation type
ENSG00000092621	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12121219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12123085	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12142268	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17024167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17186233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17258425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4659019	1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4659233	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs512854	1.00[CHB][hapmap]
rs56239558	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	nsv831204	chr1:120266449-120314091	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv831215	chr1:120266449-120448469	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120258600-120289200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:120263400-120291400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:120279200-120290600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:120280400-120289400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:120282000-120293400	Weak transcription	Aorta	Aorta
6	chr1:120285400-120288800	Weak transcription	HSMM	muscle
7	chr1:120285600-120292200	Weak transcription	Lung	lung
8	chr1:120285800-120289400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:120285800-120289600	Weak transcription	Ovary	ovary
10	chr1:120286000-120289600	Weak transcription	Pancreas	Pancrea
11	chr1:120286000-120290000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:120286000-120290200	Weak transcription	NHLF	lung
13	chr1:120286200-120289200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:120286200-120289200	Weak transcription	Placenta	Placenta
15	chr1:120286400-120289200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:120286600-120289200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:120286600-120289200	Weak transcription	Gastric	stomach
18	chr1:120286600-120289200	Weak transcription	HMEC	breast
19	chr1:120286600-120289600	Enhancers	Liver	Liver
20	chr1:120286600-120289600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:120286600-120291400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:120286800-120289600	Weak transcription	Esophagus	oesophagus
23	chr1:120286800-120289800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:120286800-120289800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:120286800-120290800	Weak transcription	Adipose Nuclei	Adipose
26	chr1:120286800-120290800	Weak transcription	Colonic Mucosa	Colon
27	chr1:120286800-120290800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:120286800-120290800	Weak transcription	Fetal Lung	lung
29	chr1:120286800-120297800	Weak transcription	Right Ventricle	heart
30	chr1:120286800-120302200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:120286800-120310000	Weak transcription	Psoas Muscle	Psoas
32	chr1:120287000-120290800	Weak transcription	Spleen	Spleen
33	chr1:120287000-120301800	Weak transcription	Left Ventricle	heart
34	chr1:120287000-120308200	Weak transcription	Stomach Mucosa	stomach
35	chr1:120287200-120288800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr1:120287200-120288800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:120287200-120288800	Weak transcription	Brain Germinal Matrix	brain
38	chr1:120287200-120289200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:120287200-120289400	Weak transcription	NHEK	skin
40	chr1:120287200-120289600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:120287200-120290000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:120287200-120290000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:120287200-120290000	Weak transcription	Hela-S3	cervix
44	chr1:120287200-120290400	Weak transcription	Fetal Heart	heart
45	chr1:120287200-120293400	Weak transcription	Right Atrium	heart
46	chr1:120287200-120308800	Weak transcription	Fetal Kidney	kidney
47	chr1:120287400-120288800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:120287400-120288800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:120287400-120289200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:120287400-120289200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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