Variant report

Variant	rs12435229
Chromosome Location	chr14:68759462-68759463
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68758764..68760372-chr14:69260521..69262938,2	MCF-7	breast:
2	chr14:68716325..68719103-chr14:68757433..68761699,4	MCF-7	breast:
3	chr14:68750556..68752152-chr14:68758382..68760171,2	K562	blood:
4	chr14:68758495..68760542-chr14:68773448..68775284,2	MCF-7	breast:
5	chr14:68758837..68760910-chr14:68771179..68773357,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10146680	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11844086	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11848477	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs12323708	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12432392	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[ASN][1000 genomes]
rs12432997	0.86[JPT][hapmap]
rs12433646	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12434580	1.00[ASN][1000 genomes]
rs12435186	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12435617	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs12436418	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12437046	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs17105291	0.94[ASN][1000 genomes]
rs17105332	0.90[MKK][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes]
rs17105341	0.87[YRI][hapmap];1.00[AFR][1000 genomes]
rs17105407	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2025011	0.96[AFR][1000 genomes]
rs2104046	0.85[ASN][1000 genomes]
rs2331665	0.97[ASN][1000 genomes]
rs34186721	0.91[ASN][1000 genomes]
rs34573256	1.00[AFR][1000 genomes]
rs34632606	0.97[ASN][1000 genomes]
rs3784098	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3784100	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3784103	0.85[ASN][1000 genomes]
rs3784105	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap]
rs3932486	1.00[AFR][1000 genomes]
rs4083474	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs4633645	0.91[ASN][1000 genomes]
rs7151372	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7151587	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8016350	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs911256	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs9323505	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs9944146	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[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	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68746600-68764600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:68750400-68761200	Weak transcription	Pancreas	Pancrea
3	chr14:68750600-68759600	Weak transcription	Brain Hippocampus Middle	brain
4	chr14:68750800-68761800	Weak transcription	Left Ventricle	heart
5	chr14:68752400-68761600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:68752400-68765000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:68752400-68768800	Weak transcription	Aorta	Aorta
8	chr14:68752600-68761600	Weak transcription	Spleen	Spleen
9	chr14:68752600-68763800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr14:68753400-68768800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:68753600-68768600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:68753600-68768800	Weak transcription	Dnd41	blood
13	chr14:68754000-68760200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:68756400-68763400	Enhancers	Primary B cells from peripheral blood	blood
15	chr14:68756600-68759600	Enhancers	Primary B cells from cord blood	blood
16	chr14:68756600-68765200	Enhancers	Fetal Intestine Small	intestine
17	chr14:68757600-68759800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:68757800-68765200	Enhancers	Fetal Intestine Large	intestine
19	chr14:68758000-68759600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr14:68758000-68759600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr14:68758000-68760000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:68758000-68760400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr14:68758000-68760600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:68758000-68761800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:68758200-68759800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr14:68758200-68759800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr14:68758200-68760200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr14:68758200-68760400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr14:68758200-68760400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr14:68758200-68760600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr14:68758200-68760600	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr14:68758200-68760600	Enhancers	K562	blood
33	chr14:68758200-68761200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr14:68758200-68761800	Enhancers	HepG2	liver
35	chr14:68758200-68762200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr14:68758200-68762800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr14:68758200-68762800	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr14:68758200-68762800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr14:68758200-68763000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr14:68758200-68763000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr14:68758200-68765600	Enhancers	Primary T cells from cord blood	blood
42	chr14:68758400-68759600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:68758400-68759600	Enhancers	Fetal Heart	heart
44	chr14:68758400-68759800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr14:68758400-68759800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr14:68758400-68759800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr14:68758400-68760200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:68758400-68760400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:68758400-68760400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:68758400-68760600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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