Variant report

Variant	rs8021520
Chromosome Location	chr14:105818206-105818207
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	SMC3	chr14:105818198-105818946	SK-N-SH	brain:	n/a	n/a
2	RAD21	chr14:105818096-105819117	SK-N-SH	brain:	n/a	chr14:105818403-105818417

No.	Distal block	Cell Line	Cell type
1	chr14:105672353..105675037-chr14:105816632..105818750,2	K562	blood:
2	chr14:105766892..105768433-chr14:105817126..105818747,2	MCF-7	breast:
3	chr14:105558381..105561586-chr14:105815711..105819042,3	MCF-7	breast:
4	chr14:105815824..105818513-chr14:105821483..105824307,2	K562	blood:

Variant related genes	Relation type
PACS2	TF binding region
ENSG00000185024	Chromatin interaction
ENSG00000257556	Chromatin interaction
ENSG00000179364	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10132438	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135362	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141048	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142682	1.00[ASN][1000 genomes]
rs10143232	1.00[EUR][1000 genomes]
rs10147378	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147674	0.83[ASN][1000 genomes]
rs10148379	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148455	1.00[ASN][1000 genomes]
rs11847153	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11847295	1.00[AMR][1000 genomes]
rs11849421	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12101178	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28378394	1.00[ASN][1000 genomes]
rs28545538	1.00[ASN][1000 genomes]
rs28569215	1.00[ASN][1000 genomes]
rs28589825	1.00[AMR][1000 genomes]
rs57000673	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57229884	1.00[ASN][1000 genomes]
rs58816330	0.83[ASN][1000 genomes]
rs59143495	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60545468	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60719574	1.00[AMR][1000 genomes]
rs6576084	0.83[ASN][1000 genomes]
rs7144362	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73357391	1.00[ASN][1000 genomes]
rs73357398	1.00[AMR][1000 genomes]
rs73359013	1.00[AMR][1000 genomes]
rs73359015	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73359017	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73359022	1.00[EUR][1000 genomes]
rs73359035	1.00[ASN][1000 genomes]
rs73359049	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73359058	1.00[AMR][1000 genomes]
rs73359059	1.00[AMR][1000 genomes]
rs73359061	1.00[AMR][1000 genomes]
rs73359066	1.00[AMR][1000 genomes]
rs73359072	1.00[AMR][1000 genomes]
rs8010649	1.00[ASN][1000 genomes]
rs8021663	1.00[AMR][1000 genomes]
rs9671782	0.83[ASN][1000 genomes]
rs9671890	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105784000-105821800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:105793800-105821000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:105797000-105849200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:105797200-105820800	Weak transcription	NHLF	lung
5	chr14:105797400-105821200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:105798200-105818400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:105799000-105822200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:105799800-105830800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:105804600-105821000	Weak transcription	Gastric	stomach
10	chr14:105804600-105829800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr14:105804800-105818400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr14:105807400-105830800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:105807400-105833600	Weak transcription	Aorta	Aorta
14	chr14:105807600-105818400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr14:105807800-105818400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr14:105808600-105848600	Weak transcription	HSMMtube	muscle
17	chr14:105809800-105821200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:105809800-105830200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:105809800-105830400	Weak transcription	Fetal Lung	lung
20	chr14:105810000-105833800	Weak transcription	Colon Smooth Muscle	Colon
21	chr14:105810200-105818400	Weak transcription	A549	lung
22	chr14:105812600-105829600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr14:105812800-105821000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr14:105813400-105828000	Strong transcription	Fetal Intestine Small	intestine
25	chr14:105813800-105828400	Strong transcription	Fetal Stomach	stomach
26	chr14:105814000-105822000	Weak transcription	Psoas Muscle	Psoas
27	chr14:105814200-105818400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:105814200-105818600	Strong transcription	Fetal Muscle Leg	muscle
29	chr14:105814200-105820600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:105814200-105823200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:105814200-105848600	Weak transcription	Left Ventricle	heart
32	chr14:105815000-105821400	Weak transcription	Colonic Mucosa	Colon
33	chr14:105815600-105818800	Genic enhancers	Fetal Muscle Trunk	muscle
34	chr14:105816400-105831000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr14:105816600-105820200	Weak transcription	Fetal Intestine Large	intestine
36	chr14:105816600-105820600	Weak transcription	Primary T cells from cord blood	blood
37	chr14:105816800-105818400	Weak transcription	Adipose Nuclei	Adipose
38	chr14:105816800-105818400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr14:105816800-105819600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:105816800-105820600	Weak transcription	Thymus	Thymus
41	chr14:105816800-105821600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:105817000-105818400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:105817200-105818400	Weak transcription	Placenta	Placenta
44	chr14:105817200-105818400	Weak transcription	HepG2	liver
45	chr14:105817200-105820600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:105817200-105821000	Weak transcription	Esophagus	oesophagus
47	chr14:105817200-105821000	Weak transcription	Ovary	ovary
48	chr14:105817400-105818400	Weak transcription	Right Ventricle	heart
49	chr14:105817400-105821400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:105817600-105818400	Weak transcription	Lung	lung

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