Variant report

Variant	rs1371470
Chromosome Location	chr2:190312820-190312821
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190304647..190309768-chr2:190311973..190319968,12	MCF-7	breast:
2	chr2:190310939..190313402-chr2:190419193..190420763,2	MCF-7	breast:
3	chr2:190310567..190312254-chr2:190312605..190315190,2	MCF-7	breast:
4	chr2:190312541..190316389-chr2:190328485..190332647,5	K562	blood:
5	chr2:190312100..190314852-chr2:190315958..190317604,2	MCF-7	breast:
6	chr2:190311604..190313492-chr2:190323415..190325116,2	K562	blood:

Variant related genes	Relation type
ENSG00000115368	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10497701	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10497702	0.94[ASN][1000 genomes]
rs11681937	0.84[AMR][1000 genomes]
rs11684417	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11686908	0.92[ASN][1000 genomes]
rs11688806	0.94[ASN][1000 genomes]
rs1402369	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17198857	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17198892	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17271015	0.84[AMR][1000 genomes]
rs17271036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17271043	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17271057	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17271071	0.90[ASN][1000 genomes]
rs2289225	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2304701	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55822942	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58584769	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58926658	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61410845	0.88[ASN][1000 genomes]
rs62182066	0.84[AMR][1000 genomes]
rs62182070	0.88[ASN][1000 genomes]
rs62184647	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62184648	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62184649	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62184652	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62184653	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62187072	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62187074	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62187075	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62187077	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62187078	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62187082	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62187106	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6721290	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6747132	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72914141	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72914175	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7423067	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv584062	chr2:190272195-190376493	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190306800-190323000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:190306800-190323800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:190306800-190344200	Weak transcription	Esophagus	oesophagus
4	chr2:190307000-190317600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:190307000-190334200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:190307200-190313200	Weak transcription	Fetal Kidney	kidney
7	chr2:190307200-190313400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:190307400-190313000	Weak transcription	HSMMtube	muscle
9	chr2:190307600-190313000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:190307600-190313200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:190307600-190314200	Weak transcription	Brain Germinal Matrix	brain
12	chr2:190307600-190314800	Weak transcription	Left Ventricle	heart
13	chr2:190307600-190314800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:190307600-190315000	Weak transcription	Gastric	stomach
15	chr2:190307600-190316200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:190307600-190316200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:190307600-190316400	Weak transcription	Colonic Mucosa	Colon
18	chr2:190307600-190317000	Weak transcription	Fetal Stomach	stomach
19	chr2:190307600-190317200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:190307600-190317400	Weak transcription	Lung	lung
21	chr2:190307600-190322600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:190307600-190323400	Weak transcription	Ovary	ovary
23	chr2:190307600-190330000	Weak transcription	Fetal Heart	heart
24	chr2:190307600-190334200	Weak transcription	Pancreas	Pancrea
25	chr2:190307600-190338200	Weak transcription	Spleen	Spleen
26	chr2:190307600-190342000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:190307600-190342600	Weak transcription	Aorta	Aorta
28	chr2:190307800-190313000	Weak transcription	Brain Substantia Nigra	brain
29	chr2:190307800-190314000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:190307800-190332400	Weak transcription	Stomach Mucosa	stomach
31	chr2:190308000-190313000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:190308000-190313200	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:190308000-190317000	Weak transcription	Fetal Intestine Small	intestine
34	chr2:190308000-190334600	Weak transcription	Right Ventricle	heart
35	chr2:190308200-190313000	Weak transcription	Fetal Brain Male	brain
36	chr2:190308200-190313200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:190308200-190313400	Weak transcription	Brain Angular Gyrus	brain
38	chr2:190308200-190314800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr2:190308200-190325000	Weak transcription	Thymus	Thymus
40	chr2:190308200-190328400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:190308200-190328600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:190308200-190342800	Strong transcription	A549	lung
43	chr2:190308400-190313000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:190308400-190329800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:190308600-190313200	Weak transcription	Adipose Nuclei	Adipose
46	chr2:190308600-190313200	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:190308600-190341800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:190308600-190342200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:190308800-190316200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:190309000-190342600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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