Variant report

Variant	rs12888301
Chromosome Location	chr14:68950352-68950353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68934889..68936879-chr14:68948786..68950483,2	MCF-7	breast:
2	chr14:68927281..68930277-chr14:68947615..68950464,3	MCF-7	breast:
3	chr14:68945809..68947631-chr14:68949133..68950945,2	K562	blood:
4	chr14:68949014..68951407-chr14:68955000..68958797,3	MCF-7	breast:
5	chr14:68939193..68941696-chr14:68948813..68950407,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10133813	0.80[JPT][hapmap]
rs10135247	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10136055	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10139107	0.80[JPT][hapmap]
rs10142629	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10162434	0.89[CEU][hapmap]
rs11158743	0.87[CEU][hapmap]
rs12590642	0.86[EUR][1000 genomes]
rs12717531	0.87[CEU][hapmap]
rs2753404	0.81[ASN][1000 genomes]
rs2842318	0.80[ASN][1000 genomes]
rs2877465	0.89[CEU][hapmap]
rs3784122	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3784123	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3784131	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4899242	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4902590	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4902591	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4902592	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902595	0.80[JPT][hapmap]
rs7160842	0.81[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	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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68933600-68950600	Weak transcription	Aorta	Aorta
2	chr14:68939000-68951600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:68943400-68951600	Enhancers	Placenta	Placenta
4	chr14:68943800-68957400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:68944000-68950400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:68944000-68959200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr14:68944200-68950800	Weak transcription	Osteobl	bone
8	chr14:68944200-68951800	Weak transcription	Liver	Liver
9	chr14:68944200-68953600	Weak transcription	Right Atrium	heart
10	chr14:68944200-68955000	Weak transcription	Esophagus	oesophagus
11	chr14:68944200-68957400	Weak transcription	Fetal Muscle Leg	muscle
12	chr14:68944400-68968200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:68944600-68957400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:68944800-68953800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr14:68945000-68951200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr14:68945400-68951800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr14:68945400-68959600	Weak transcription	Primary B cells from cord blood	blood
18	chr14:68946800-68950400	Weak transcription	Fetal Intestine Small	intestine
19	chr14:68947200-68952000	Weak transcription	Fetal Intestine Large	intestine
20	chr14:68947400-68952400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr14:68947400-68952800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:68947400-68953400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr14:68947600-68950400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr14:68947600-68952400	Enhancers	Primary T cells from cord blood	blood
25	chr14:68947800-68950400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:68947800-68950400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr14:68947800-68952600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr14:68948200-68952400	Enhancers	Primary T cells fromperipheralblood	blood
29	chr14:68948600-68950600	Enhancers	Small Intestine	intestine
30	chr14:68948800-68951000	Enhancers	Fetal Stomach	stomach
31	chr14:68948800-68952200	Enhancers	Stomach Mucosa	stomach
32	chr14:68949000-68951800	Enhancers	Colon Smooth Muscle	Colon
33	chr14:68949000-68952000	Enhancers	Thymus	Thymus
34	chr14:68949200-68951000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:68949200-68952400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr14:68949400-68950800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr14:68949400-68951000	Enhancers	Fetal Lung	lung
38	chr14:68949400-68951000	Enhancers	HMEC	breast
39	chr14:68949400-68952000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:68949400-68952200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:68949400-68952400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:68949600-68950600	Enhancers	K562	blood
43	chr14:68949600-68951000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:68949600-68951000	Enhancers	Primary B cells from peripheral blood	blood
45	chr14:68949600-68951000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:68949600-68951000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:68949600-68951000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:68949600-68951000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:68949600-68951000	Enhancers	Fetal Kidney	kidney
50	chr14:68949600-68952000	Enhancers	Dnd41	blood

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