Variant report

Variant	rs4970959
Chromosome Location	chr1:151523579-151523580
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151511607..151517154-chr1:151519761..151524773,6	K562	blood:
2	1:151516085-151535167..1:151592347-151603110	GM12878	blood:
3	chr1:151481542..151488437-chr1:151515636..151525415,14	MCF-7	breast:
4	chr1:151521243..151523958-chr1:151534794..151537419,2	MCF-7	breast:
5	chr1:151430069..151432862-chr1:151521024..151523772,3	MCF-7	breast:
6	chr1:151483462..151487382-chr1:151518217..151524477,9	MCF-7	breast:
7	1:151402394-151411623..1:151516085-151535167	GM12878	blood:
8	chr1:151522558..151525413-chr1:151540386..151543231,3	MCF-7	breast:
9	chr1:151511080..151515753-chr1:151520278..151524135,5	K562	blood:
10	1:151171193-151178589..1:151516085-151535167	GM12878	blood:

No data

Variant related genes	Relation type
ENSG00000206635	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000238711	Chromatin interaction
ENSG00000143442	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10749663	1.00[MEX][hapmap]
rs10749664	1.00[AMR][1000 genomes]
rs11204831	0.83[AMR][1000 genomes]
rs1308150	1.00[MEX][hapmap]
rs1342928	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1418822	1.00[MEX][hapmap]
rs1539491	0.83[AMR][1000 genomes]
rs2211436	0.83[AMR][1000 genomes]
rs2337361	1.00[MEX][hapmap]
rs2495390	1.00[MEX][hapmap]
rs2495391	1.00[MEX][hapmap]
rs3001840	1.00[MEX][hapmap]
rs4043745	0.83[AMR][1000 genomes]
rs4246523	0.83[AMR][1000 genomes]
rs4246528	1.00[MEX][hapmap]
rs4970915	0.83[AMR][1000 genomes]
rs4970917	0.83[AMR][1000 genomes]
rs4970960	0.85[AMR][1000 genomes]
rs6587600	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7516311	0.85[AMR][1000 genomes]
rs7533032	0.85[LWK][hapmap];1.00[MEX][hapmap]
rs9661205	0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][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	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv946387	chr1:151521876-151530261	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151514400-151540800	Weak transcription	Brain Angular Gyrus	brain
2	chr1:151514400-151556800	Weak transcription	Fetal Brain Male	brain
3	chr1:151515600-151534400	Weak transcription	Brain Germinal Matrix	brain
4	chr1:151519600-151524400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:151520200-151524000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:151520200-151524600	Weak transcription	Right Atrium	heart
7	chr1:151520200-151534200	Weak transcription	Fetal Stomach	stomach
8	chr1:151520200-151536600	Weak transcription	Ovary	ovary
9	chr1:151520400-151534200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:151520400-151535800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:151520400-151536600	Weak transcription	Adipose Nuclei	Adipose
12	chr1:151520400-151536800	Weak transcription	Aorta	Aorta
13	chr1:151520600-151536000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:151520600-151536800	Weak transcription	Lung	lung
15	chr1:151520600-151542000	Weak transcription	Right Ventricle	heart
16	chr1:151520600-151545200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:151520800-151535600	Weak transcription	Colonic Mucosa	Colon
18	chr1:151520800-151535600	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:151521600-151537800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:151521600-151538600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:151521800-151541800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:151521800-151559000	Weak transcription	Small Intestine	intestine
23	chr1:151522000-151524200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:151522000-151525600	Genic enhancers	NHEK	skin
25	chr1:151522000-151526800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:151522000-151533000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:151522000-151534200	Weak transcription	Pancreas	Pancrea
28	chr1:151522000-151534800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:151522000-151535000	Weak transcription	HSMMtube	muscle
30	chr1:151522000-151536600	Weak transcription	Esophagus	oesophagus
31	chr1:151522000-151537600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:151522200-151525600	Weak transcription	HSMM	muscle
33	chr1:151522200-151525800	Weak transcription	Osteobl	bone
34	chr1:151522200-151526000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:151522200-151526000	Weak transcription	NH-A	brain
36	chr1:151522200-151526000	Weak transcription	NHLF	lung
37	chr1:151522200-151536200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:151522200-151537800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:151522200-151537800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:151522400-151523800	Weak transcription	Gastric	stomach
41	chr1:151522400-151524000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:151522400-151526000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:151522400-151534200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:151522400-151540800	Weak transcription	Stomach Mucosa	stomach
45	chr1:151522600-151523600	Strong transcription	Fetal Intestine Small	intestine
46	chr1:151522600-151525400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:151522600-151525400	Weak transcription	HMEC	breast
48	chr1:151522600-151526400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:151522600-151526400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:151522600-151534400	Weak transcription	Rectal Mucosa Donor 29	rectum

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