Variant report

Variant	rs4083474
Chromosome Location	chr14:68785333-68785334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68785289..68787914-chr14:68794616..68796810,2	MCF-7	breast:
2	chr14:68780053..68783050-chr14:68784750..68787033,2	MCF-7	breast:
3	chr14:68783910..68786453-chr14:69257725..69259956,2	MCF-7	breast:
4	chr14:68783421..68786045-chr14:68786498..68788338,2	K562	blood:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10132889	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs10136827	1.00[EUR][1000 genomes]
rs10136837	1.00[EUR][1000 genomes]
rs10146680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147024	0.92[EUR][1000 genomes]
rs11844086	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11848477	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12323708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12432392	1.00[CHB][hapmap]
rs12432997	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12435186	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12435229	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs12435617	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs12436418	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12437046	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105381	0.95[EUR][1000 genomes]
rs17105397	0.91[CEU][hapmap];1.00[EUR][1000 genomes]
rs17105407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17105443	0.91[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs17193284	0.91[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs17755115	0.81[CEU][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs2104046	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28460083	1.00[EUR][1000 genomes]
rs28502384	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28503524	1.00[EUR][1000 genomes]
rs34334823	0.94[ASN][1000 genomes]
rs35763290	0.93[EUR][1000 genomes]
rs3784098	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs3784100	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs3784105	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs55978801	1.00[EUR][1000 genomes]
rs61623658	0.84[EUR][1000 genomes]
rs7151587	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs73272283	0.97[ASN][1000 genomes]
rs73272301	0.94[ASN][1000 genomes]
rs74061613	0.94[ASN][1000 genomes]
rs8016350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911256	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9323505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323507	0.95[EUR][1000 genomes]
rs9944146	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9989140	1.00[EUR][1000 genomes]
rs9989153	0.91[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68769000-68810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68772000-68788400	Enhancers	Primary B cells from peripheral blood	blood
3	chr14:68772600-68788000	Weak transcription	Lung	lung
4	chr14:68776200-68789400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:68776400-68785400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:68777000-68785800	Weak transcription	Colon Smooth Muscle	Colon
7	chr14:68777000-68792200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:68777000-68793400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:68777800-68785400	Weak transcription	Fetal Kidney	kidney
10	chr14:68779000-68787400	Weak transcription	Primary T cells from cord blood	blood
11	chr14:68780400-68785400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:68780800-68787600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr14:68781000-68786200	Weak transcription	Fetal Stomach	stomach
14	chr14:68781200-68785800	Weak transcription	Brain Anterior Caudate	brain
15	chr14:68781200-68786800	Weak transcription	Spleen	Spleen
16	chr14:68781200-68789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:68781400-68785400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:68781600-68786200	Weak transcription	Brain Substantia Nigra	brain
19	chr14:68781600-68787600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr14:68782000-68785400	Weak transcription	Primary B cells from cord blood	blood
21	chr14:68782000-68788200	Enhancers	GM12878-XiMat	blood
22	chr14:68782200-68785400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:68782200-68785400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr14:68782200-68786600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:68782200-68786600	Weak transcription	Fetal Muscle Leg	muscle
26	chr14:68783400-68787400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:68783400-68793600	Weak transcription	Pancreas	Pancrea
28	chr14:68784200-68786400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:68784400-68789200	Weak transcription	HepG2	liver
30	chr14:68784800-68785800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr14:68784800-68786000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr14:68784800-68787600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr14:68784800-68788200	Enhancers	Ovary	ovary
34	chr14:68785000-68787600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:68785200-68785400	Enhancers	Psoas Muscle	Psoas
36	chr14:68785200-68785600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:68785200-68785600	Enhancers	Fetal Muscle Trunk	muscle
38	chr14:68785200-68785600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr14:68785200-68785800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr14:68785200-68785800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:68785200-68786000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr14:68785200-68786200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr14:68785200-68786400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:68785200-68788400	Enhancers	Fetal Lung	lung

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