Variant report

Variant	rs12883289
Chromosome Location	chr14:65189051-65189052
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	chr14:64969647..64971800-chr14:65185515..65189340,6	MCF-7	breast:
2	chr14:65005088..65007392-chr14:65188450..65190752,3	MCF-7	breast:
3	chr14:65187766..65189272-chr14:65190644..65193046,2	K562	blood:
4	chr14:65005225..65007322-chr14:65187172..65189732,2	MCF-7	breast:
5	chr14:65116281..65118430-chr14:65188317..65189997,2	MCF-7	breast:
6	chr14:65185854..65191054-chr14:65221241..65225762,8	MCF-7	breast:
7	chr14:65182036..65184800-chr14:65187210..65189994,3	MCF-7	breast:
8	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000126803	Chromatin interaction
ENSG00000259116	Chromatin interaction
ENSG00000126804	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10138034	0.96[EUR][1000 genomes]
rs11621159	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621379	0.89[EUR][1000 genomes]
rs11622754	0.96[EUR][1000 genomes]
rs11625500	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628301	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884903	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12892852	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895353	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553163	0.96[EUR][1000 genomes]
rs170683	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs170685	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229622	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229645	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs229648	1.00[ASN][1000 genomes]
rs229649	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229653	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229656	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34340219	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140781	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71420472	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732311	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943995	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65177000-65189200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:65181000-65189400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr14:65181000-65197600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr14:65181200-65189600	Enhancers	Liver	Liver
5	chr14:65181200-65197000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr14:65181600-65189400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:65181800-65190600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:65181800-65192400	Enhancers	Adipose Nuclei	Adipose
9	chr14:65181800-65194400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr14:65182000-65190800	Enhancers	Stomach Mucosa	stomach
11	chr14:65182200-65191600	Enhancers	Spleen	Spleen
12	chr14:65182800-65193800	Enhancers	Esophagus	oesophagus
13	chr14:65183000-65194600	Weak transcription	Fetal Brain Female	brain
14	chr14:65183000-65196200	Genic enhancers	Fetal Intestine Small	intestine
15	chr14:65183400-65190000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr14:65183400-65194200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:65183600-65189600	Enhancers	Ovary	ovary
18	chr14:65183600-65190000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr14:65183600-65190000	Enhancers	Duodenum Mucosa	Duodenum
20	chr14:65183600-65193800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr14:65183800-65191800	Weak transcription	Brain Germinal Matrix	brain
22	chr14:65183800-65193400	Enhancers	Right Atrium	heart
23	chr14:65183800-65193800	Enhancers	Pancreas	Pancrea
24	chr14:65184000-65208800	Weak transcription	Fetal Brain Male	brain
25	chr14:65184200-65189200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:65184200-65189600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr14:65184200-65189600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr14:65184200-65193800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr14:65184400-65189200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:65184400-65189200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:65184600-65189400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr14:65184600-65189400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr14:65184600-65193200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr14:65185200-65189600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr14:65185400-65189200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:65185400-65189600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr14:65185400-65190000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr14:65185400-65190000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr14:65185800-65193600	Enhancers	Brain Angular Gyrus	brain
40	chr14:65186000-65189600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr14:65186200-65189400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr14:65186200-65189400	Enhancers	HMEC	breast
43	chr14:65186200-65189400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr14:65186200-65190000	Enhancers	Lung	lung
45	chr14:65186200-65192400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:65186400-65191000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr14:65186400-65192400	Enhancers	Osteobl	bone
48	chr14:65186400-65194400	Enhancers	Fetal Intestine Large	intestine
49	chr14:65186600-65191200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:65186800-65190000	Enhancers	Gastric	stomach

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