Variant report

Variant	rs56956469
Chromosome Location	chr14:70194684-70194685
allele	G/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70076993..70079854-chr14:70193916..70195796,2	K562	blood:
2	chr14:70193717..70196360-chr14:70274467..70276382,2	MCF-7	breast:
3	chr14:70078354..70079913-chr14:70192981..70195416,2	K562	blood:
4	chr14:70050809..70053734-chr14:70194375..70196806,2	K562	blood:
5	chr14:70193435..70195061-chr14:70232589..70234499,2	K562	blood:
6	chr14:70076119..70078735-chr14:70193171..70195049,2	MCF-7	breast:
7	chr14:70193520..70195047-chr14:70270485..70272012,2	MCF-7	breast:
8	chr14:70193807..70196140-chr14:70232599..70234319,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction
ENSG00000221060	Chromatin interaction
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs55988102	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56002959	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56051240	1.00[AMR][1000 genomes]
rs56808476	1.00[AMR][1000 genomes]
rs56859443	1.00[AMR][1000 genomes]
rs57194889	1.00[AMR][1000 genomes]
rs58140746	1.00[AMR][1000 genomes]
rs58583730	1.00[AMR][1000 genomes]
rs59555734	1.00[AMR][1000 genomes]
rs60085780	1.00[AMR][1000 genomes]
rs60493601	1.00[AMR][1000 genomes]
rs60835679	1.00[AMR][1000 genomes]
rs74060204	1.00[AMR][1000 genomes]
rs74060205	1.00[AMR][1000 genomes]
rs74060219	1.00[AMR][1000 genomes]
rs74060234	1.00[AMR][1000 genomes]
rs74060237	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060267	1.00[AMR][1000 genomes]
rs74060270	1.00[AMR][1000 genomes]
rs74060294	1.00[AMR][1000 genomes]
rs74061848	1.00[AMR][1000 genomes]
rs74061849	1.00[AMR][1000 genomes]
rs74061850	1.00[AMR][1000 genomes]
rs74061851	1.00[AMR][1000 genomes]
rs74061853	1.00[AMR][1000 genomes]
rs74061856	1.00[AMR][1000 genomes]
rs74061857	1.00[AMR][1000 genomes]
rs74061864	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70192400-70195400	Enhancers	Fetal Muscle Leg	muscle
2	chr14:70193200-70195000	Enhancers	Lung	lung
3	chr14:70193800-70195600	Weak transcription	Left Ventricle	heart
4	chr14:70194000-70194800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:70194000-70195000	Enhancers	Fetal Muscle Trunk	muscle
6	chr14:70194000-70195000	Enhancers	Spleen	Spleen
7	chr14:70194000-70196000	Enhancers	HUVEC	blood vessel
8	chr14:70194000-70196600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:70194000-70196800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:70194000-70199200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:70194200-70194800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:70194200-70195000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr14:70194200-70195000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr14:70194200-70195200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:70194200-70195400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:70194200-70195400	Weak transcription	K562	blood
17	chr14:70194200-70195800	Weak transcription	Small Intestine	intestine
18	chr14:70194200-70197600	Weak transcription	Liver	Liver
19	chr14:70194200-70197800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr14:70194200-70200400	Weak transcription	Esophagus	oesophagus
21	chr14:70194400-70194800	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr14:70194400-70195000	Enhancers	Adipose Nuclei	Adipose
23	chr14:70194400-70195600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:70194400-70195600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr14:70194400-70195800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr14:70194400-70197800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr14:70194400-70197800	Weak transcription	Hela-S3	cervix
28	chr14:70194600-70194800	Bivalent Enhancer	HepG2	liver
29	chr14:70194600-70195200	Weak transcription	Fetal Stomach	stomach

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