Variant report

Variant	rs1331750
Chromosome Location	chr1:59547655-59547656
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr1:59547631-59547827	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr1:59547529-59547831	MCF10A-Er-Src	breast:	n/a	chr1:59547670-59547681
3	FOS	chr1:59547536-59547806	HUVEC	blood vessel:	n/a	chr1:59547670-59547681
4	FOSL2	chr1:59547372-59547973	SK-N-SH	brain:	n/a	n/a
5	FOS	chr1:59547543-59547835	MCF10A-Er-Src	breast:	n/a	chr1:59547670-59547681
6	FOS	chr1:59547492-59547842	MCF10A-Er-Src	breast:	n/a	chr1:59547670-59547681
7	MYC	chr1:59547485-59547763	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:59543187..59544807-chr1:59546554..59548140,2	K562	blood:
2	chr1:59245136..59249509-chr1:59544104..59550391,6	K562	blood:
3	chr1:59537768..59540290-chr1:59546301..59549154,2	K562	blood:
4	chr1:59244876..59251429-chr1:59540803..59548111,10	K562	blood:

Variant related genes	Relation type
ENSG00000235215	TF binding region
ENSG00000235215	Chromatin interaction
ENSG00000234807	Chromatin interaction
ENSG00000177606	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11207335	1.00[MEX][hapmap]
rs11207336	1.00[MEX][hapmap]
rs12059773	1.00[MEX][hapmap]
rs12082896	1.00[MEX][hapmap]
rs12092950	1.00[MEX][hapmap]

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	nsv829970	chr1:59547102-59711161	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr1:59529600-59549600	Weak transcription	Right Atrium	heart
2	chr1:59537200-59549800	Weak transcription	Gastric	stomach
3	chr1:59537400-59549600	Weak transcription	Left Ventricle	heart
4	chr1:59537600-59549600	Weak transcription	Pancreas	Pancrea
5	chr1:59538600-59549800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:59541800-59548200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:59543800-59550000	Weak transcription	Lung	lung
8	chr1:59544000-59549800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:59544200-59549200	Weak transcription	Dnd41	blood
10	chr1:59544200-59549200	Weak transcription	K562	blood
11	chr1:59544400-59548800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:59544600-59549000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:59544800-59548000	Enhancers	Osteobl	bone
14	chr1:59545000-59548000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:59545000-59548200	Enhancers	NHDF-Ad	bronchial
16	chr1:59545400-59550000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:59545800-59548400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:59545800-59549600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:59545800-59549800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:59545800-59549800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:59546000-59549200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:59546000-59549600	Weak transcription	Brain Anterior Caudate	brain
23	chr1:59546000-59549600	Weak transcription	HSMM	muscle
24	chr1:59546000-59549600	Weak transcription	NH-A	brain
25	chr1:59546200-59549200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:59546200-59549200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:59546200-59549200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:59546200-59549200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:59546200-59549200	Weak transcription	Fetal Intestine Small	intestine
30	chr1:59546200-59549600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:59546200-59549600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:59546200-59549600	Weak transcription	Adipose Nuclei	Adipose
33	chr1:59546200-59549600	Weak transcription	Fetal Intestine Large	intestine
34	chr1:59546200-59549600	Weak transcription	Fetal Stomach	stomach
35	chr1:59546200-59549800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:59546400-59549200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:59546400-59549200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:59546400-59549200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:59546400-59549600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr1:59546400-59550000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:59546400-59556000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:59546600-59548000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:59546600-59549400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:59546600-59549600	Weak transcription	Psoas Muscle	Psoas
45	chr1:59546800-59548200	Enhancers	NHEK	skin
46	chr1:59546800-59551200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:59547000-59548000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:59547000-59548200	Enhancers	HMEC	breast
49	chr1:59547000-59549400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:59547200-59548200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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