Variant report

Variant	rs548480189
Chromosome Location	chr3:56716653-56716654
allele	A/C
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:56705021..56708606-chr3:56714722..56718211,5	MCF-7	breast:
2	chr3:56714433..56716910-chr3:57020526..57023323,2	MCF-7	breast:
3	chr3:56715125..56717534-chr4:38104477..38107344,2	MCF-7	breast:
4	chr3:56589231..56591997-chr3:56715959..56718849,3	K562	blood:
5	chr12:50134951..50135493-chr3:56716063..56717030,2	Hela-S3	cervix:
6	chr3:56666598..56668908-chr3:56715764..56717337,2	MCF-7	breast:
7	chr3:56716510..56717020-chr3:113233644..113234198,2	Hela-S3	cervix:
8	chr3:56589586..56592975-chr3:56714350..56719200,6	K562	blood:
9	chr3:56716275..56717973-chr3:56833928..56836671,2	K562	blood:
10	chr3:56715514..56718317-chr3:56833414..56836251,4	MCF-7	breast:
11	chr3:56716520..56717389-chr6:26157669..26158536,2	Hela-S3	cervix:
12	chr10:126106969..126107773-chr3:56716259..56717211,2	Hela-S3	cervix:
13	chr3:56716645..56717530-chr8:101734318..101735231,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000163947	Chromatin interaction
ENSG00000065882	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000163611	Chromatin interaction
ENSG00000065154	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000180376	Chromatin interaction
ENSG00000163946	Chromatin interaction
ENSG00000070756	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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	esv3327056	chr3:56715937-56718485	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56713600-56717600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:56713800-56717400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr3:56713800-56717400	Active TSS	GM12878-XiMat	blood
4	chr3:56713800-56717400	Active TSS	K562	blood
5	chr3:56714600-56717400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr3:56714600-56717400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:56714800-56717400	Active TSS	HMEC	breast
8	chr3:56714800-56717600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:56715000-56717400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr3:56715200-56717400	Active TSS	H1 Cell Line	embryonic stem cell
11	chr3:56715200-56717600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:56715200-56717800	Active TSS	Thymus	Thymus
13	chr3:56715400-56717400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr3:56715400-56717400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:56715400-56717400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:56715400-56717400	Active TSS	A549	lung
17	chr3:56715400-56717600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:56715400-56717600	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr3:56715400-56717600	Active TSS	NHLF	lung
20	chr3:56715600-56718000	Active TSS	Brain Angular Gyrus	brain
21	chr3:56715600-56718000	Active TSS	HSMMtube	muscle
22	chr3:56715800-56716800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:56715800-56717200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:56715800-56717400	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr3:56715800-56717400	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr3:56715800-56717400	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr3:56715800-56717400	Active TSS	Primary T cells fromperipheralblood	blood
28	chr3:56715800-56717400	Active TSS	Fetal Thymus	thymus
29	chr3:56715800-56717400	Active TSS	Stomach Smooth Muscle	stomach
30	chr3:56715800-56717400	Active TSS	HepG2	liver
31	chr3:56715800-56717400	Active TSS	HSMM	muscle
32	chr3:56715800-56717600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:56715800-56717600	Active TSS	Hela-S3	cervix
34	chr3:56715800-56717800	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr3:56715800-56717800	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr3:56715800-56718000	Active TSS	Brain Hippocampus Middle	brain
37	chr3:56715800-56718000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:56716000-56717200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr3:56716000-56717400	Active TSS	H9 Cell Line	embryonic stem cell
40	chr3:56716000-56717400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:56716000-56717400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr3:56716000-56717400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:56716000-56717400	Active TSS	Aorta	Aorta
44	chr3:56716000-56717400	Active TSS	Brain Cingulate Gyrus	brain
45	chr3:56716000-56717400	Active TSS	Brain Germinal Matrix	brain
46	chr3:56716000-56717400	Active TSS	Colon Smooth Muscle	Colon
47	chr3:56716000-56717400	Active TSS	Fetal Intestine Large	intestine
48	chr3:56716000-56717400	Active TSS	Fetal Intestine Small	intestine
49	chr3:56716000-56717400	Active TSS	Fetal Muscle Trunk	muscle
50	chr3:56716000-56717400	Active TSS	Fetal Muscle Leg	muscle

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