Variant report

Variant	rs674513
Chromosome Location	chr1:210424674-210424675
allele	G/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:210313972..210316201-chr1:210423103..210425366,2	MCF-7	breast:
2	chr1:210422501..210425086-chr1:210426035..210428636,3	MCF-7	breast:
3	chr1:210424216..210425917-chr1:210546411..210548100,2	K562	blood:
4	chr1:210413923..210415474-chr1:210422643..210424699,2	MCF-7	breast:
5	chr1:210424564..210426699-chr1:210446134..210449273,3	MCF-7	breast:
6	chr1:210424072..210425856-chr1:210442744..210445693,2	MCF-7	breast:
7	chr1:210423750..210428226-chr1:210545532..210548687,6	MCF-7	breast:
8	chr1:210417487..210419206-chr1:210423476..210426436,2	MCF-7	breast:
9	chr1:210403920..210408133-chr1:210424303..210428339,6	MCF-7	breast:
10	chr1:210404569..210409056-chr1:210423278..210427525,11	MCF-7	breast:
11	chr1:210424408..210427087-chr1:210436244..210439135,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction
ENSG00000203706	Chromatin interaction
ENSG00000082497	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11119444	0.80[ASN][1000 genomes]
rs12239420	0.88[ASN][1000 genomes]
rs2473814	0.88[ASN][1000 genomes]
rs2494185	0.87[ASN][1000 genomes]
rs2494186	0.88[ASN][1000 genomes]
rs34463765	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4844981	0.85[ASN][1000 genomes]
rs624270	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs624706	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs654523	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs656312	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs660611	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs677520	0.88[ASN][1000 genomes]
rs845451	0.95[ASN][1000 genomes]
rs9430037	0.88[ASN][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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	esv3373545	chr1:210423754-210426302	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210423200-210424800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:210423600-210424800	Enhancers	Small Intestine	intestine
3	chr1:210423600-210428000	Enhancers	Fetal Heart	heart
4	chr1:210423800-210424800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:210423800-210425000	Bivalent Enhancer	NHLF	lung
6	chr1:210423800-210426600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:210424000-210424800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:210424000-210424800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:210424000-210424800	Enhancers	Esophagus	oesophagus
10	chr1:210424000-210424800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr1:210424000-210425000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:210424000-210425000	Active TSS	Brain Hippocampus Middle	brain
13	chr1:210424000-210425000	Enhancers	Lung	lung
14	chr1:210424000-210425200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:210424000-210425200	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr1:210424000-210425400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr1:210424000-210425400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:210424000-210425600	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr1:210424000-210425600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
20	chr1:210424000-210426400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr1:210424000-210426400	Enhancers	Fetal Brain Male	brain
22	chr1:210424000-210426600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr1:210424000-210426600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr1:210424200-210424800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
25	chr1:210424200-210424800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:210424200-210424800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
27	chr1:210424200-210424800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
28	chr1:210424200-210425000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
29	chr1:210424200-210425000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
30	chr1:210424200-210425000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr1:210424200-210425000	Active TSS	Stomach Smooth Muscle	stomach
32	chr1:210424200-210425200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:210424200-210425200	Active TSS	Aorta	Aorta
34	chr1:210424200-210425200	Active TSS	Brain Cingulate Gyrus	brain
35	chr1:210424200-210425200	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr1:210424200-210425200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:210424200-210425200	Active TSS	Colon Smooth Muscle	Colon
38	chr1:210424200-210425200	Active TSS	Fetal Brain Female	brain
39	chr1:210424200-210425200	Bivalent Enhancer	Fetal Thymus	thymus
40	chr1:210424200-210425400	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr1:210424200-210425400	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr1:210424200-210425400	Active TSS	Brain Anterior Caudate	brain
43	chr1:210424200-210425400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr1:210424200-210425400	Flanking Active TSS	HMEC	breast
45	chr1:210424200-210425600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr1:210424200-210425600	Active TSS	Colonic Mucosa	Colon
47	chr1:210424200-210425600	Flanking Active TSS	HUVEC	blood vessel
48	chr1:210424200-210425800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:210424200-210426200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:210424200-210426600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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