Variant report

Variant	rs28656275
Chromosome Location	chr14:105817550-105817551
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105817534-105817584	HCF	heart:	n/a
2	chr14:105817534-105817584	K562	blood:	n/a
3	chr14:105817512-105817562	LNCaP	prostate:	n/a
4	chr14:105817512-105817562	HIPEpiC	eye:	n/a
5	chr14:105817512-105817562	SK-N-SH_RA	brain:	n/a
6	chr14:105817512-105817562	U87	brain:	n/a
7	chr14:105817534-105817584	AG10803	skin:	n/a
8	chr14:105817512-105817562	PANC-1	pancreas:	n/a
9	chr14:105817512-105817562	HRE	kidney:	n/a
10	chr14:105817512-105817562	ovcar-3	ovarian:	n/a
11	chr14:105817512-105817562	HepG2	liver:	n/a
12	chr14:105817512-105817562	HL-60	blood:	n/a
13	chr14:105817534-105817584	SK-N-SH_RA	brain:	n/a
14	chr14:105817512-105817562	HMEC	breast:	n/a
15	chr14:105817534-105817584	GM12892	blood:	n/a
16	chr14:105817534-105817584	AoSMC	blood vessel:	n/a
17	chr14:105817512-105817562	HRPEpiC	eye:	n/a
18	chr14:105817534-105817584	NT2-D1	testis:	n/a
19	chr14:105817534-105817584	HIPEpiC	eye:	n/a
20	chr14:105817534-105817584	U87	brain:	n/a
21	chr14:105817534-105817584	ProgFib	skin:	n/a
22	chr14:105817534-105817584	HRPEpiC	eye:	n/a
23	chr14:105817534-105817584	IMR90	lung:	fetal
24	chr14:105817512-105817562	SK-N-SH	brain:	n/a
25	chr14:105817534-105817584	AG04450	lung:	fetal
26	chr14:105817512-105817562	NHBE	bronchial:	n/a
27	chr14:105817512-105817562	AG04449	skin:	fetal
28	chr14:105817534-105817584	HAEpiC	amniotic membrane:	n/a
29	chr14:105817534-105817584	NH-A	brain:	n/a
30	chr14:105817512-105817562	GM06990	blood:	n/a
31	chr14:105817534-105817584	AG09319	gingival:	n/a
32	chr14:105817512-105817562	HCF	heart:	n/a
33	chr14:105817534-105817584	AG09309	skin:	n/a
34	chr14:105817512-105817562	NT2-D1	testis:	n/a
35	chr14:105817512-105817562	CMK	blood:	n/a
36	chr14:105817534-105817584	GM12878	blood:	n/a
37	chr14:105817534-105817584	ECC-1	luminal epithelium:	n/a
38	chr14:105817512-105817562	IMR90	lung:	fetal
39	chr14:105817512-105817562	HEEpiC	esophagus:	n/a
40	chr14:105817534-105817584	GM12891	blood:	n/a
41	chr14:105817512-105817562	HRCEpiC	kidney:	n/a
42	chr14:105817512-105817562	SKMC	muscle:	n/a
43	chr14:105817512-105817562	HCPEpiC	choroid plexus:	n/a
44	chr14:105817512-105817562	K562	blood:	n/a
45	chr14:105817512-105817562	HCT-116	colon:	n/a
46	chr14:105817534-105817584	HMEC	breast:	n/a
47	chr14:105817512-105817562	GM12892	blood:	n/a
48	chr14:105817512-105817562	RPTEC	kidney:	n/a
49	chr14:105817534-105817584	PANC-1	pancreas:	n/a
50	chr14:105817512-105817562	AG04450	lung:	fetal

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105672353..105675037-chr14:105816632..105818750,2	K562	blood:
2	chr14:105811941..105813512-chr14:105815343..105817687,2	K562	blood:
3	chr14:105766892..105768433-chr14:105817126..105818747,2	MCF-7	breast:
4	chr14:105558381..105561586-chr14:105815711..105819042,3	MCF-7	breast:
5	chr14:105815824..105818513-chr14:105821483..105824307,2	K562	blood:

No data

Variant related genes	Relation type
PACS2	CpG island
ENSG00000185024	Chromatin interaction
ENSG00000257556	Chromatin interaction
ENSG00000179364	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10131650	1.00[AMR][1000 genomes]
rs10134069	1.00[AMR][1000 genomes]
rs12885832	1.00[AMR][1000 genomes]
rs9671246	0.80[AFR][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:89 , 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	chr14:105800200-105818200	Weak transcription	Stomach Mucosa	stomach
10	chr14:105800800-105818000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr14:105804600-105821000	Weak transcription	Gastric	stomach
12	chr14:105804600-105829800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr14:105804800-105818400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr14:105805000-105818200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:105807400-105830800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr14:105807400-105833600	Weak transcription	Aorta	Aorta
17	chr14:105807600-105818400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr14:105807800-105818400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:105808600-105818200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr14:105808600-105848600	Weak transcription	HSMMtube	muscle
21	chr14:105809800-105821200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:105809800-105830200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:105809800-105830400	Weak transcription	Fetal Lung	lung
24	chr14:105810000-105833800	Weak transcription	Colon Smooth Muscle	Colon
25	chr14:105810200-105818400	Weak transcription	A549	lung
26	chr14:105812600-105829600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr14:105812800-105818000	Weak transcription	Liver	Liver
28	chr14:105812800-105818200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:105812800-105818200	Weak transcription	HUVEC	blood vessel
30	chr14:105812800-105818200	Weak transcription	K562	blood
31	chr14:105812800-105821000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr14:105813400-105828000	Strong transcription	Fetal Intestine Small	intestine
33	chr14:105813600-105818200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:105813800-105828400	Strong transcription	Fetal Stomach	stomach
35	chr14:105814000-105822000	Weak transcription	Psoas Muscle	Psoas
36	chr14:105814200-105818200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr14:105814200-105818200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:105814200-105818200	Weak transcription	Brain Angular Gyrus	brain
39	chr14:105814200-105818400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr14:105814200-105818600	Strong transcription	Fetal Muscle Leg	muscle
41	chr14:105814200-105820600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:105814200-105823200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr14:105814200-105848600	Weak transcription	Left Ventricle	heart
44	chr14:105814600-105817600	Strong transcription	Brain Germinal Matrix	brain
45	chr14:105814600-105817600	Strong transcription	Lung	lung
46	chr14:105814600-105818000	Strong transcription	Fetal Brain Female	brain
47	chr14:105815000-105821400	Weak transcription	Colonic Mucosa	Colon
48	chr14:105815200-105817600	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr14:105815200-105818000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr14:105815200-105818200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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