Variant report

Variant	rs10305693
Chromosome Location	chr1:150809388-150809389
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	POLR2A	chr1:150809355-150809410	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150808768..150811697-chr1:150895772..150898745,2	MCF-7	breast:
2	chr1:150809240..150812046-chr1:150847558..150849215,2	MCF-7	breast:

Variant related genes	Relation type
ARNT	TF binding region
ENSG00000143379	Chromatin interaction
ENSG00000143437	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10305657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10305698	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10305702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10305725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10305728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10305740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10305741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10305751	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34053871	1.00[ASN][1000 genomes]
rs34355066	1.00[ASN][1000 genomes]
rs34645101	1.00[ASN][1000 genomes]
rs41266595	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41266603	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41266901	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41266927	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41272021	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41272023	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55772167	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55954760	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6660291	1.00[ASN][1000 genomes]
rs6672493	1.00[ASN][1000 genomes]
rs74127015	1.00[ASN][1000 genomes]
rs7550234	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv437169	chr1:150738197-150816886	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	nsv872420	chr1:150786038-150847647	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1010875	chr1:150796816-150845827	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	esv1793983	chr1:150804748-150825924	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150782200-150809600	Strong transcription	Fetal Muscle Leg	muscle
2	chr1:150782200-150809800	Strong transcription	Stomach Smooth Muscle	stomach
3	chr1:150782200-150813000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:150782400-150812200	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr1:150783200-150809800	Strong transcription	Fetal Thymus	thymus
6	chr1:150783200-150816600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:150783200-150816800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:150785800-150812400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:150788400-150809800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr1:150788400-150812200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:150790800-150811400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:150792200-150814800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:150792600-150815400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:150792800-150812400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr1:150793000-150816400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:150793200-150823200	Strong transcription	Placenta	Placenta
17	chr1:150793600-150815800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:150793800-150813800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr1:150794000-150809600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:150794000-150813600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr1:150794600-150812800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:150797000-150814400	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:150797400-150809600	Strong transcription	Left Ventricle	heart
24	chr1:150797400-150810200	Strong transcription	NHLF	lung
25	chr1:150797400-150812400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:150797400-150813000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:150797400-150813400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:150797600-150809400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr1:150797600-150810200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:150797600-150810400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:150797600-150810800	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:150797600-150812400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:150797600-150812400	Strong transcription	Duodenum Mucosa	Duodenum
34	chr1:150797600-150812400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:150797600-150812600	Strong transcription	Adipose Nuclei	Adipose
36	chr1:150797600-150813400	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr1:150797600-150815600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:150797800-150809400	Strong transcription	NHDF-Ad	bronchial
39	chr1:150797800-150811800	Strong transcription	Primary T cells from cord blood	blood
40	chr1:150797800-150812600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:150797800-150812600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:150797800-150812600	Strong transcription	Fetal Brain Female	brain
43	chr1:150798000-150809400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:150798000-150809600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:150798000-150809600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:150798000-150810400	Strong transcription	Brain Hippocampus Middle	brain
47	chr1:150798200-150810200	Strong transcription	Brain Anterior Caudate	brain
48	chr1:150798200-150815600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:150798400-150812400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:150799600-150816600	Strong transcription	HSMM	muscle

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