Variant report

Variant	rs1109652
Chromosome Location	chr14:70174917-70174918
allele	A/G
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	chr14:70169497..70172180-chr14:70172528..70176030,3	MCF-7	breast:
2	chr14:70163327..70165190-chr14:70172444..70175243,2	MCF-7	breast:
3	chr14:70167048..70168975-chr14:70173982..70176158,3	K562	blood:
4	chr14:70169496..70171161-chr14:70174199..70176251,2	K562	blood:
5	chr14:70077689..70079372-chr14:70172805..70175318,2	MCF-7	breast:
6	chr14:70172067..70174968-chr14:70175832..70177369,2	K562	blood:
7	chr14:69614483..69616460-chr14:70174912..70176900,2	MCF-7	breast:
8	chr14:70169010..70170880-chr14:70173572..70175615,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12435686	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12589913	0.80[ASN][1000 genomes]
rs12590789	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1275824	0.81[ASN][1000 genomes]
rs12895185	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2152373	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2224541	0.81[ASN][1000 genomes]
rs4899308	0.80[ASN][1000 genomes]
rs4902747	0.87[ASN][1000 genomes]
rs6573897	0.87[ASN][1000 genomes]
rs6573902	0.91[ASN][1000 genomes]
rs7146578	0.85[ASN][1000 genomes]
rs8008410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs875424	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs943275	0.88[ASN][1000 genomes]
rs945311	0.87[ASN][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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70160000-70177600	Weak transcription	Fetal Brain Female	brain
2	chr14:70161200-70176200	Weak transcription	NHDF-Ad	bronchial
3	chr14:70161600-70179200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:70162800-70178000	Weak transcription	HSMM	muscle
5	chr14:70163000-70175600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:70163000-70177800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:70163200-70175400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:70163400-70179400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:70163400-70183400	Weak transcription	Hela-S3	cervix
10	chr14:70163600-70176000	Weak transcription	NHEK	skin
11	chr14:70164000-70178800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:70166600-70175400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:70166600-70179000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:70168000-70177400	Strong transcription	Fetal Intestine Small	intestine
15	chr14:70168200-70179200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:70168400-70175000	Weak transcription	Stomach Mucosa	stomach
17	chr14:70169000-70175400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr14:70169000-70175400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:70169000-70175400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:70169000-70177600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr14:70169200-70176200	Weak transcription	Fetal Brain Male	brain
22	chr14:70169400-70175400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:70169600-70175000	Weak transcription	Colonic Mucosa	Colon
24	chr14:70169600-70175200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr14:70170000-70178000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:70170000-70178000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:70170000-70178200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:70170000-70178400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:70170200-70175000	Weak transcription	Psoas Muscle	Psoas
30	chr14:70170200-70175400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:70170200-70177600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:70170200-70177600	Strong transcription	Fetal Intestine Large	intestine
33	chr14:70170200-70177600	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr14:70170200-70178400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:70170200-70178400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:70170400-70175200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:70170400-70176000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr14:70170400-70177400	Weak transcription	Fetal Heart	heart
39	chr14:70170400-70177400	Weak transcription	Small Intestine	intestine
40	chr14:70170400-70177600	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr14:70170400-70178200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:70170400-70178800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr14:70170600-70175000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr14:70170600-70175800	Weak transcription	Colon Smooth Muscle	Colon
45	chr14:70170600-70177600	Weak transcription	Right Atrium	heart
46	chr14:70170600-70177800	Weak transcription	Ovary	ovary
47	chr14:70170600-70178600	Strong transcription	Thymus	Thymus
48	chr14:70170800-70175400	Weak transcription	Brain Angular Gyrus	brain
49	chr14:70170800-70175400	Weak transcription	Gastric	stomach
50	chr14:70170800-70175600	Weak transcription	Brain Germinal Matrix	brain

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