Variant report

Variant	rs9323512
Chromosome Location	chr14:68949557-68949558
allele	A/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	chr14:68934889..68936879-chr14:68948786..68950483,2	MCF-7	breast:
2	chr14:68946983..68949928-chr14:68952224..68954178,2	K562	blood:
3	chr14:68947089..68949808-chr14:68953310..68954848,2	MCF-7	breast:
4	chr14:68927281..68930277-chr14:68947615..68950464,3	MCF-7	breast:
5	chr14:68941174..68942779-chr14:68948287..68949886,2	MCF-7	breast:
6	chr14:68945809..68947631-chr14:68949133..68950945,2	K562	blood:
7	chr14:68949014..68951407-chr14:68955000..68958797,3	MCF-7	breast:
8	chr14:68939193..68941696-chr14:68948813..68950407,2	K562	blood:

No data

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10130683	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10138140	1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10146772	0.88[CEU][hapmap]
rs10149340	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10149349	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10467820	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12435914	0.81[ASN][1000 genomes]
rs12886864	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1468279	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2040783	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2074562	0.83[ASN][1000 genomes]
rs2074563	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2074564	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2074565	1.00[CEU][hapmap];0.91[CHB][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2093202	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2097800	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2107340	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2331701	0.96[CEU][hapmap]
rs2717217	0.85[ASN][1000 genomes]
rs2842322	0.82[ASN][1000 genomes]
rs3784124	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4411448	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902594	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5004090	1.00[CEU][hapmap];0.92[CHB][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6573837	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs746663	0.96[CEU][hapmap]
rs8012610	0.85[CEU][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	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
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68932200-68950000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:68933600-68950600	Weak transcription	Aorta	Aorta
3	chr14:68939000-68951600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:68943400-68951600	Enhancers	Placenta	Placenta
5	chr14:68943600-68949600	Weak transcription	Fetal Kidney	kidney
6	chr14:68943800-68950000	Weak transcription	Fetal Heart	heart
7	chr14:68943800-68957400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:68944000-68950200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:68944000-68950400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:68944000-68959200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr14:68944200-68949600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:68944200-68949600	Weak transcription	Fetal Thymus	thymus
13	chr14:68944200-68949800	Weak transcription	Spleen	Spleen
14	chr14:68944200-68950200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr14:68944200-68950200	Weak transcription	Gastric	stomach
16	chr14:68944200-68950800	Weak transcription	Osteobl	bone
17	chr14:68944200-68951800	Weak transcription	Liver	Liver
18	chr14:68944200-68953600	Weak transcription	Right Atrium	heart
19	chr14:68944200-68955000	Weak transcription	Esophagus	oesophagus
20	chr14:68944200-68957400	Weak transcription	Fetal Muscle Leg	muscle
21	chr14:68944400-68949600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:68944400-68949600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:68944400-68968200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:68944600-68957400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:68944800-68949800	Weak transcription	NHDF-Ad	bronchial
26	chr14:68944800-68953800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr14:68945000-68951200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr14:68945200-68950000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:68945400-68951800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr14:68945400-68959600	Weak transcription	Primary B cells from cord blood	blood
31	chr14:68945600-68950200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:68946000-68950200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:68946200-68949600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr14:68946200-68950200	Weak transcription	HUVEC	blood vessel
35	chr14:68946400-68949600	Weak transcription	K562	blood
36	chr14:68946400-68950200	Weak transcription	HepG2	liver
37	chr14:68946600-68949600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr14:68946600-68949600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:68946600-68949800	Weak transcription	NHEK	skin
40	chr14:68946600-68950200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:68946800-68949600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:68946800-68949600	Weak transcription	Pancreas	Pancrea
43	chr14:68946800-68950400	Weak transcription	Fetal Intestine Small	intestine
44	chr14:68947200-68952000	Weak transcription	Fetal Intestine Large	intestine
45	chr14:68947400-68949800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr14:68947400-68952400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr14:68947400-68952800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:68947400-68953400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr14:68947600-68950400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr14:68947600-68952400	Enhancers	Primary T cells from cord blood	blood

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