Variant report

Variant	rs636374
Chromosome Location	chr1:210466359-210466360
allele	A/G
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:2)
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	chr1:210405884..210407720-chr1:210465372..210467174,2	MCF-7	breast:
2	chr1:210418192..210421005-chr1:210465903..210469381,6	MCF-7	breast:
3	chr1:210462820..210467272-chr1:210545539..210548914,4	K562	blood:
4	chr1:210466322..210468395-chr1:210546602..210548755,2	MCF-7	breast:
5	chr1:210456418..210459693-chr1:210464885..210466635,3	MCF-7	breast:
6	chr1:210465950..210468476-chr1:210473987..210476235,2	MCF-7	breast:
7	chr1:210466185..210468740-chr1:210546709..210548670,2	MCF-7	breast:
8	chr1:210439102..210441660-chr1:210465161..210467933,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HHAT-2	chr1:210465691-210467192	NONHSAT009261
2	lnc-C1orf133-1	chr1:210466289-210466574	XLOC_001188

No data

Variant related genes	Relation type
ENSG00000203706	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000082497	Chromatin interaction
ENSG00000228110	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2057044	0.91[EUR][1000 genomes]
rs2884187	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs633352	0.88[AFR][1000 genomes]
rs635084	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs639095	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs640031	0.88[AFR][1000 genomes]
rs6672768	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7416272	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7516171	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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	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

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210464200-210467400	Enhancers	Fetal Lung	lung
2	chr1:210465200-210466400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr1:210465200-210466400	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr1:210465200-210466400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:210465200-210466400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
6	chr1:210465200-210466600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:210465200-210467000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:210465400-210466400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:210465400-210466400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:210465400-210466400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:210465400-210466400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:210465400-210466400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:210465400-210466400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:210465400-210466400	Active TSS	Right Atrium	heart
15	chr1:210465400-210466400	Active TSS	Right Ventricle	heart
16	chr1:210465400-210466600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr1:210465400-210466600	Bivalent Enhancer	Fetal Brain Male	brain
18	chr1:210465400-210466600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr1:210465400-210466600	Bivalent Enhancer	Fetal Thymus	thymus
20	chr1:210465400-210466800	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr1:210465400-210467000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:210465400-210467400	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr1:210465600-210466400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:210465600-210466400	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr1:210465600-210466400	Active TSS	Brain Substantia Nigra	brain
26	chr1:210465600-210466400	Active TSS	Esophagus	oesophagus
27	chr1:210465600-210466400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr1:210465600-210466400	Active TSS	Left Ventricle	heart
29	chr1:210465600-210466400	Flanking Bivalent TSS/Enh	Thymus	Thymus
30	chr1:210465600-210466400	Flanking Active TSS	HSMM	muscle
31	chr1:210465600-210466400	Flanking Active TSS	NH-A	brain
32	chr1:210465600-210466600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
33	chr1:210465600-210466600	Flanking Active TSS	Colonic Mucosa	Colon
34	chr1:210465600-210466600	Active TSS	Fetal Kidney	kidney
35	chr1:210465600-210466600	Flanking Active TSS	Fetal Stomach	stomach
36	chr1:210465600-210466600	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr1:210465600-210466600	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr1:210465600-210466600	Flanking Active TSS	HMEC	breast
39	chr1:210465600-210466800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr1:210465600-210466800	Active TSS	Aorta	Aorta
41	chr1:210465600-210466800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr1:210465600-210467200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:210465800-210466400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:210465800-210466400	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr1:210465800-210466400	Active TSS	Pancreas	Pancrea
46	chr1:210465800-210466400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
47	chr1:210465800-210466400	Active TSS	Stomach Mucosa	stomach
48	chr1:210465800-210466600	Active TSS	Brain Hippocampus Middle	brain
49	chr1:210465800-210466600	Flanking Active TSS	Ovary	ovary
50	chr1:210465800-210466800	Flanking Active TSS	Fetal Muscle Leg	muscle

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