Variant report

Variant	rs12436418
Chromosome Location	chr14:68741535-68741536
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: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	chr14:68334516..68336214-chr14:68741208..68743110,2	MCF-7	breast:
2	chr14:68740676..68743465-chr14:68744041..68745922,2	K562	blood:
3	chr14:68740317..68742420-chr14:68870103..68871791,2	MCF-7	breast:
4	chr14:68739540..68742303-chr14:68747560..68750666,4	MCF-7	breast:
5	chr14:68740932..68744536-chr14:69121884..69124192,3	MCF-7	breast:
6	chr14:68739624..68742701-chr14:69255913..69259570,3	MCF-7	breast:
7	chr14:68740011..68745148-chr14:69257189..69263006,8	MCF-7	breast:
8	chr14:68741150..68743310-chr14:69260106..69262299,3	MCF-7	breast:
9	chr14:68740444..68743175-chr14:69252311..69254670,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

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];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[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12432997	0.86[JPT][hapmap]
rs12433646	1.00[ASN][1000 genomes]
rs12434580	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12435186	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12435229	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12435617	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12437046	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs17105291	0.94[ASN][1000 genomes]
rs17105407	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2104046	0.85[ASN][1000 genomes]
rs2331665	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34186721	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34632606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3784098	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3784100	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3784103	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3784105	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes]
rs4083474	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs4633645	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7151372	1.00[ASN][1000 genomes]
rs7151587	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8016350	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs911256	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs9323505	1.00[CHB][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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68729200-68749400	Weak transcription	Lung	lung
2	chr14:68730000-68745000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:68731600-68746000	Enhancers	Primary B cells from peripheral blood	blood
4	chr14:68731800-68749000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:68732000-68741800	Enhancers	Primary B cells from cord blood	blood
6	chr14:68732600-68743600	Enhancers	Primary T cells from cord blood	blood
7	chr14:68734200-68742600	Enhancers	Fetal Lung	lung
8	chr14:68735200-68742200	Weak transcription	Thymus	Thymus
9	chr14:68735600-68742200	Weak transcription	Dnd41	blood
10	chr14:68736200-68741800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:68736200-68745000	Weak transcription	Liver	Liver
12	chr14:68736400-68742400	Weak transcription	Small Intestine	intestine
13	chr14:68736400-68745400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:68736600-68745200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:68736600-68745200	Weak transcription	HSMMtube	muscle
16	chr14:68736600-68745400	Weak transcription	Spleen	Spleen
17	chr14:68737000-68745200	Weak transcription	Brain Hippocampus Middle	brain
18	chr14:68737400-68744800	Weak transcription	HepG2	liver
19	chr14:68737400-68745200	Weak transcription	Psoas Muscle	Psoas
20	chr14:68737400-68745400	Weak transcription	Brain Anterior Caudate	brain
21	chr14:68738000-68745000	Weak transcription	Fetal Kidney	kidney
22	chr14:68738600-68742600	Weak transcription	Fetal Intestine Small	intestine
23	chr14:68739000-68741600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr14:68739000-68750000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr14:68739200-68742600	Weak transcription	Colon Smooth Muscle	Colon
26	chr14:68739200-68745200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:68739200-68748200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr14:68740000-68750200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr14:68740000-68751600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr14:68740200-68741600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:68740200-68741800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr14:68740200-68741800	Enhancers	HUVEC	blood vessel
33	chr14:68740200-68746600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr14:68740400-68741800	Weak transcription	Fetal Thymus	thymus
35	chr14:68740400-68742200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:68740400-68742400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr14:68740400-68742800	Enhancers	Primary hematopoietic stem cells	blood
38	chr14:68740400-68744600	Weak transcription	Pancreas	Pancrea
39	chr14:68740400-68745800	Weak transcription	Ovary	ovary
40	chr14:68740800-68742200	Enhancers	A549	lung
41	chr14:68740800-68742600	Enhancers	Stomach Mucosa	stomach
42	chr14:68740800-68742800	Enhancers	K562	blood
43	chr14:68740800-68744000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:68741000-68743200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr14:68741200-68743000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:68741200-68743000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:68741200-68743000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr14:68741200-68743000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr14:68741200-68743200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr14:68741200-68743600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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