Variant report

Variant	rs914836
Chromosome Location	chr1:56903435-56903436
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56898942..56900515-chr1:56902397..56903937,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11206807	0.93[EUR][1000 genomes]
rs11206808	0.93[EUR][1000 genomes]
rs2780864	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2780865	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72662266	0.95[EUR][1000 genomes]
rs72662267	0.93[EUR][1000 genomes]
rs914837	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs914836	C1orf175	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56896600-56904200	Enhancers	Brain Angular Gyrus	brain
2	chr1:56897200-56906000	Enhancers	Brain Anterior Caudate	brain
3	chr1:56897200-56906000	Enhancers	Brain Cingulate Gyrus	brain
4	chr1:56897200-56906000	Enhancers	Brain Substantia Nigra	brain
5	chr1:56897600-56904200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:56898000-56904000	Enhancers	Fetal Intestine Large	intestine
7	chr1:56898000-56904000	Enhancers	Fetal Intestine Small	intestine
8	chr1:56898000-56906400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:56898200-56904800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:56898600-56904000	Weak transcription	Psoas Muscle	Psoas
11	chr1:56899000-56905000	Weak transcription	Adipose Nuclei	Adipose
12	chr1:56899000-56906000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:56899400-56903600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:56899400-56904000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:56899400-56904800	Weak transcription	Liver	Liver
16	chr1:56899600-56903600	Enhancers	Placenta	Placenta
17	chr1:56900200-56903800	Weak transcription	HUVEC	blood vessel
18	chr1:56900200-56905600	Enhancers	Left Ventricle	heart
19	chr1:56900400-56904200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:56900400-56904200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:56900400-56906000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:56900400-56906400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:56900600-56904000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:56900600-56904200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:56900600-56905000	Weak transcription	Gastric	stomach
26	chr1:56900600-56912000	Weak transcription	Esophagus	oesophagus
27	chr1:56901000-56903800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:56901000-56904200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:56901200-56904200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:56901800-56903800	Weak transcription	Stomach Mucosa	stomach
31	chr1:56901800-56905400	Weak transcription	Fetal Thymus	thymus
32	chr1:56901800-56906000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr1:56902000-56905200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:56902000-56905600	Weak transcription	Primary B cells from cord blood	blood
35	chr1:56902000-56912200	Weak transcription	Lung	lung
36	chr1:56902200-56903600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:56902200-56904000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr1:56902200-56904200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:56902200-56905400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr1:56902200-56911800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:56902400-56904400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr1:56902400-56906200	Enhancers	Brain Hippocampus Middle	brain
43	chr1:56902400-56907200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr1:56903000-56903600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr1:56903000-56904200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr1:56903000-56904200	Enhancers	Spleen	Spleen
47	chr1:56903000-56904600	Enhancers	H9 Cell Line	embryonic stem cell
48	chr1:56903000-56905400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:56903000-56906400	Enhancers	HepG2	liver
50	chr1:56903200-56904800	Weak transcription	Fetal Muscle Leg	muscle

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