Variant report

Variant	rs549424475
Chromosome Location	chr6:76045962-76045963
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:76045920-76045970	GM19239	blood:	n/a
2	chr6:76045920-76045970	SK-N-SH_RA	brain:	n/a
3	chr6:76045920-76045970	MCF10A-Er-Src	breast:	n/a
4	chr6:76045920-76045970	HUVEC	blood vessel:	n/a
5	chr6:76045920-76045970	SK-N-SH	brain:	n/a
6	chr6:76045920-76045970	CMK	blood:	n/a
7	chr6:76045920-76045970	SK-N-MC	brain:	n/a
8	chr6:76045920-76045970	NB4	blood:	n/a
9	chr6:76045920-76045970	BJ	skin:	n/a
10	chr6:76045920-76045970	Jurkat	blood:	n/a
11	chr6:76045920-76045970	Hepatocyte	liver:	n/a
12	chr6:76045920-76045970	ECC-1	luminal epithelium:	n/a
13	chr6:76045920-76045970	PANC-1	pancreas:	n/a
14	chr6:76045920-76045970	PrEC	prostate:	n/a
15	chr6:76045920-76045970	SKMC	muscle:	n/a
16	chr6:76045920-76045970	NH-A	brain:	n/a
17	chr6:76045920-76045970	HEK293	kidney:	embryo
18	chr6:76045920-76045970	NT2-D1	testis:	n/a
19	chr6:76045920-76045970	Caco-2	colon:	n/a
20	chr6:76045920-76045970	GM12892	blood:	n/a
21	chr6:76045920-76045970	HNPCEpiC	eye:	n/a
22	chr6:76045920-76045970	PFSK-1	brain:	n/a
23	chr6:76045920-76045970	Hela-S3	cervix:	n/a
24	chr6:76045920-76045970	AG09319	gingival:	n/a
25	chr6:76045920-76045970	HRE	kidney:	n/a
26	chr6:76045920-76045970	A549	lung:	n/a
27	chr6:76045920-76045970	AG04450	lung:	fetal
28	chr6:76045920-76045970	HPAEpiC	pulmonary alveolar:	n/a
29	chr6:76045920-76045970	HIPEpiC	eye:	n/a
30	chr6:76045920-76045970	NHDF-neo	bronchial:	n/a
31	chr6:76045920-76045970	GM12878	blood:	n/a
32	chr6:76045920-76045970	SAEC	small airway:	n/a
33	chr6:76045920-76045970	U87	brain:	n/a
34	chr6:76045920-76045970	HRPEpiC	eye:	n/a
35	chr6:76045920-76045970	GM06990	blood:	n/a
36	chr6:76045920-76045970	HRCEpiC	kidney:	n/a
37	chr6:76045920-76045970	HCPEpiC	choroid plexus:	n/a
38	chr6:76045920-76045970	AG04449	skin:	fetal
39	chr6:76045920-76045970	ProgFib	skin:	n/a
40	chr6:76045920-76045970	H1-hESC	embryonic stem cell:	embryo
41	chr6:76045920-76045970	NHBE	bronchial:	n/a
42	chr6:76045920-76045970	ovcar-3	ovarian:	n/a
43	chr6:76045920-76045970	GM12891	blood:	n/a
44	chr6:76045920-76045970	HCF	heart:	n/a
45	chr6:76045920-76045970	HMEC	breast:	n/a
46	chr6:76045920-76045970	HAEpiC	amniotic membrane:	n/a
47	chr6:76045920-76045970	AG10803	skin:	n/a
48	chr6:76045920-76045970	K562	blood:	n/a
49	chr6:76045920-76045970	BE2_C	brain:	n/a
50	chr6:76045920-76045970	HEEpiC	esophagus:	n/a

No data

Variant related genes	Relation type
FILIP1	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
6	nsv830698	chr6:75968810-76115592	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
8	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
9	nsv1032245	chr6:76045537-76545703	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
10	nsv538313	chr6:76045537-76545703	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76024800-76047200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:76043200-76046000	Enhancers	Fetal Heart	heart
3	chr6:76043600-76046000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:76043600-76046400	Enhancers	Colon Smooth Muscle	Colon
5	chr6:76044200-76046200	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr6:76044200-76046200	Enhancers	Rectal Smooth Muscle	rectum
7	chr6:76044400-76049200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:76044600-76046600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:76044600-76047200	Weak transcription	Psoas Muscle	Psoas
10	chr6:76044600-76047600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:76044600-76052200	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:76044600-76072800	Weak transcription	A549	lung
13	chr6:76044800-76046000	Enhancers	Fetal Lung	lung
14	chr6:76044800-76047000	Weak transcription	Left Ventricle	heart
15	chr6:76044800-76047200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr6:76044800-76052000	Weak transcription	Brain Anterior Caudate	brain
17	chr6:76044800-76054000	Weak transcription	Right Ventricle	heart
18	chr6:76044800-76058400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr6:76044800-76059000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:76044800-76059000	Weak transcription	Aorta	Aorta
21	chr6:76044800-76059000	Weak transcription	Fetal Brain Male	brain
22	chr6:76044800-76059000	Weak transcription	Ovary	ovary
23	chr6:76045000-76046000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr6:76045000-76046400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:76045000-76046400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr6:76045000-76046400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr6:76045000-76046800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:76045000-76047600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:76045000-76053800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr6:76045000-76056800	Weak transcription	Fetal Stomach	stomach
31	chr6:76045000-76058600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr6:76045000-76058800	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:76045200-76046000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr6:76045200-76046000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:76045200-76047200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr6:76045400-76046000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr6:76045400-76047400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr6:76045600-76047200	Weak transcription	HUVEC	blood vessel
39	chr6:76045600-76048400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr6:76045800-76046000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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