Variant report

Variant	rs1275824
Chromosome Location	chr14:70194563-70194564
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: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
ENSG00000221060	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1109652	0.81[ASN][1000 genomes]
rs12435686	0.80[CHB][hapmap]
rs12589913	0.81[CHB][hapmap]
rs1275828	0.94[CHB][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12895185	0.81[CHB][hapmap]
rs2152373	0.81[CHB][hapmap]
rs2224541	0.81[CHB][hapmap]
rs2332163	0.82[YRI][hapmap]
rs4899308	0.81[CHB][hapmap]
rs7146578	0.84[JPT][hapmap];0.80[EUR][1000 genomes]
rs875424	0.81[CHB][hapmap]

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:31 , 50 per page) page: 1

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

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