Variant report

Variant	rs62182446
Chromosome Location	chr2:172821223-172821224
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172777519..172781580-chr2:172819100..172823049,4	K562	blood:
2	chr2:172819141..172821293-chr2:172950099..172951644,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128708	Chromatin interaction
ENSG00000144355	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17428076	0.85[AMR][1000 genomes]
rs55681218	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56133507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182401	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62182404	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62182425	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62182429	0.83[AMR][1000 genomes]
rs62182432	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182437	0.83[AMR][1000 genomes]
rs62182444	0.82[AMR][1000 genomes]
rs62183762	0.87[AMR][1000 genomes]
rs62183763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183765	0.87[AMR][1000 genomes]
rs62183776	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72889094	0.83[AMR][1000 genomes]
rs72890841	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72890842	0.87[AMR][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	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr2:172779800-172828400	Weak transcription	Aorta	Aorta
2	chr2:172780000-172829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:172780200-172822200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:172780200-172840400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:172780600-172822200	Weak transcription	Liver	Liver
7	chr2:172780600-172822200	Weak transcription	Fetal Kidney	kidney
8	chr2:172780600-172847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
10	chr2:172781400-172822000	Weak transcription	HUVEC	blood vessel
11	chr2:172783600-172851000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:172785400-172822200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:172785400-172822400	Weak transcription	Placenta	Placenta
14	chr2:172785800-172822200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:172787800-172822200	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:172790400-172825200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:172796000-172855200	Weak transcription	Gastric	stomach
18	chr2:172796800-172832200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:172797000-172822200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:172797000-172822200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:172798200-172822200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:172798200-172822600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:172805000-172822200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:172805400-172822000	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:172806400-172822400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:172807400-172845400	Weak transcription	Spleen	Spleen
27	chr2:172807600-172822400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:172808000-172847200	Weak transcription	Fetal Brain Female	brain
29	chr2:172808000-172849400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:172809000-172822600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:172809800-172837800	Weak transcription	Esophagus	oesophagus
32	chr2:172810000-172862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:172810200-172822200	Weak transcription	Thymus	Thymus
34	chr2:172810400-172825400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:172811400-172822200	Weak transcription	Right Ventricle	heart
36	chr2:172811400-172826000	Weak transcription	Hela-S3	cervix
37	chr2:172811400-172846200	Weak transcription	Brain Substantia Nigra	brain
38	chr2:172811600-172821600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:172811600-172822000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:172811600-172823600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:172811800-172821800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:172811800-172822200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:172811800-172822400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:172811800-172823200	Weak transcription	HMEC	breast
45	chr2:172811800-172823600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:172811800-172852200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:172811800-172855600	Weak transcription	Fetal Heart	heart
48	chr2:172812000-172822400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr2:172812400-172822400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:172812400-172845200	Weak transcription	Colonic Mucosa	Colon

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