Variant report

Variant	rs35342887
Chromosome Location	chr1:151504689-151504690
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151481429..151491154-chr1:151502501..151517487,49	MCF-7	breast:
2	chr1:151496110..151498200-chr1:151502978..151504701,3	MCF-7	breast:
3	chr1:151494134..151498303-chr1:151504253..151506959,4	MCF-7	breast:
4	chr1:151503878..151505402-chr1:151507240..151508985,2	K562	blood:
5	1:151171193-151178589..1:151496437-151509688	Hela-S3	cervix:
6	1:151496437-151509688..1:151592347-151603110	Hela-S3	cervix:
7	chr1:151429642..151432951-chr1:151501518..151504787,4	K562	blood:
8	1:151402394-151411623..1:151496437-151509688	K562	blood:

No data

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

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11204844	0.83[EUR][1000 genomes]
rs16833376	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17640579	0.82[EUR][1000 genomes]
rs17640598	0.81[EUR][1000 genomes]
rs55840963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6686193	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72692715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72692721	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151484600-151512000	Weak transcription	Right Atrium	heart
2	chr1:151485200-151511800	Weak transcription	Fetal Brain Female	brain
3	chr1:151485800-151511800	Weak transcription	Brain Germinal Matrix	brain
4	chr1:151485800-151512200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:151486600-151511800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:151486800-151512200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:151487000-151511800	Weak transcription	Small Intestine	intestine
8	chr1:151489200-151507000	Weak transcription	NHEK	skin
9	chr1:151489200-151507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:151491000-151505200	Strong transcription	Duodenum Mucosa	Duodenum
11	chr1:151491600-151509000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:151492000-151507400	Weak transcription	Stomach Mucosa	stomach
13	chr1:151493200-151507600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:151493400-151511800	Weak transcription	Brain Anterior Caudate	brain
15	chr1:151493400-151511800	Weak transcription	Ovary	ovary
16	chr1:151493400-151512200	Weak transcription	Fetal Kidney	kidney
17	chr1:151493600-151511200	Strong transcription	Fetal Intestine Large	intestine
18	chr1:151494400-151511800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:151495200-151506200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:151495400-151511200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:151495400-151511400	Strong transcription	Liver	Liver
22	chr1:151495600-151505000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr1:151495600-151511000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:151497600-151510200	Strong transcription	Fetal Intestine Small	intestine
25	chr1:151498000-151511800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:151498200-151505800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:151498200-151508800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:151499800-151505000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:151499800-151508600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:151499800-151511000	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr1:151500000-151511000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:151500000-151511000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:151500800-151510800	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:151501200-151511000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:151501800-151510800	Strong transcription	Pancreas	Pancrea
36	chr1:151502000-151505600	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr1:151502400-151509800	Weak transcription	Brain Angular Gyrus	brain
38	chr1:151502600-151505000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:151502600-151511800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:151503000-151507200	Weak transcription	Brain Substantia Nigra	brain
41	chr1:151503200-151507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:151503200-151508600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:151503200-151508600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:151503400-151504800	Weak transcription	Gastric	stomach
45	chr1:151503400-151506000	Weak transcription	Lung	lung
46	chr1:151503400-151507600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:151503400-151508000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:151503400-151508000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:151503400-151508000	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:151503400-151511800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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