Variant report

Variant	rs1006816
Chromosome Location	chr14:68868289-68868290
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68867189..68869332-chr14:68884473..68886880,2	MCF-7	breast:
2	chr14:68858725..68872867-chr14:69250734..69263104,36	MCF-7	breast:
3	chr14:68865212..68868859-chr14:68924955..68927209,3	MCF-7	breast:
4	chr14:68710399..68712782-chr14:68867549..68870456,2	MCF-7	breast:
5	chr14:68867029..68869423-chr14:68870114..68872143,2	MCF-7	breast:
6	chr14:68868129..68871052-chr14:68933938..68936786,3	MCF-7	breast:
7	chr14:68862766..68869873-chr14:69251663..69259874,10	MCF-7	breast:
8	chr14:68866618..68869023-chr14:68869534..68873462,3	K562	blood:
9	chr14:68867331..68869089-chr14:68876839..68879617,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182185	Chromatin interaction
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10146772	0.91[CHB][hapmap]
rs10150212	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11158734	0.81[CEU][hapmap];0.82[ASN][1000 genomes]
rs11158735	0.90[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11158736	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11625452	0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs12435046	0.89[ASN][1000 genomes]
rs12889666	0.91[CEU][hapmap];0.86[JPT][hapmap]
rs12889770	0.91[CEU][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1956536	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1956537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2025009	0.82[CHB][hapmap]
rs2331696	0.83[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs3784116	0.86[JPT][hapmap]
rs3784119	0.87[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs3784120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3950069	0.86[JPT][hapmap]
rs4902576	0.92[CEU][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4902577	0.92[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55665241	0.89[ASN][1000 genomes]
rs61039700	0.81[ASN][1000 genomes]
rs8012610	0.87[CHB][hapmap]
rs8014025	0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs8014234	0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs8021199	0.82[JPT][hapmap]
rs927221	0.83[CEU][hapmap]
rs9323508	0.82[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68859800-68871400	Weak transcription	Gastric	stomach
2	chr14:68861200-68869400	Weak transcription	Liver	Liver
3	chr14:68861800-68871400	Weak transcription	Right Ventricle	heart
4	chr14:68862000-68870400	Weak transcription	Brain Substantia Nigra	brain
5	chr14:68862600-68869800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:68863600-68870000	Enhancers	Primary B cells from cord blood	blood
7	chr14:68863600-68877200	Enhancers	Primary B cells from peripheral blood	blood
8	chr14:68864400-68874400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr14:68864800-68871400	Weak transcription	Esophagus	oesophagus
10	chr14:68864800-68874200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr14:68864800-68878000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr14:68865000-68869000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr14:68865000-68869400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:68865000-68869600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:68865000-68869600	Weak transcription	HUVEC	blood vessel
16	chr14:68865000-68872400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr14:68865000-68877000	Weak transcription	Pancreas	Pancrea
18	chr14:68865200-68869600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:68865200-68869600	Weak transcription	Lung	lung
20	chr14:68865200-68869600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr14:68865200-68870000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr14:68865200-68871200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:68865400-68869600	Weak transcription	NHDF-Ad	bronchial
24	chr14:68865400-68869600	Weak transcription	Osteobl	bone
25	chr14:68865400-68870800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:68865600-68869400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:68865800-68874600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr14:68866200-68873200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr14:68866400-68868400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr14:68866400-68868600	Enhancers	Colon Smooth Muscle	Colon
31	chr14:68866400-68873400	Enhancers	HMEC	breast
32	chr14:68866600-68868400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr14:68866600-68868400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:68866600-68868400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr14:68866600-68868400	Enhancers	Brain Hippocampus Middle	brain
36	chr14:68866600-68869600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:68866600-68869800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr14:68866600-68870400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:68866600-68870400	Enhancers	Fetal Muscle Leg	muscle
40	chr14:68866600-68870600	Enhancers	Placenta	Placenta
41	chr14:68866600-68871000	Enhancers	Rectal Smooth Muscle	rectum
42	chr14:68866600-68871800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr14:68866600-68872200	Enhancers	Fetal Thymus	thymus
44	chr14:68866600-68873000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:68866600-68873400	Enhancers	Placenta Amnion	Placenta Amnion
46	chr14:68866800-68868400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:68866800-68868400	Enhancers	Brain Anterior Caudate	brain
48	chr14:68866800-68868800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:68866800-68869800	Enhancers	Primary hematopoietic stem cells	blood
50	chr14:68866800-68870400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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