Variant report

Variant	rs4902578
Chromosome Location	chr14:68875129-68875130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr14:68875098-68875977	GM12878	blood:	n/a	n/a
2	CTCF	chr14:68875120-68875270	AG09309	skin:	n/a	n/a
3	RUNX3	chr14:68874859-68875940	GM12878	blood:	n/a	chr14:68875131-68875148

No.	Distal block	Cell Line	Cell type
1	chr14:68717908..68718808-chr14:68875069..68875621,2	MCF-7	breast:
2	chr14:68874787..68877042-chr14:69256947..69261262,5	MCF-7	breast:
3	chr14:68869686..68872632-chr14:68873283..68875194,2	MCF-7	breast:
4	chr14:68874422..68876560-chr14:68917210..68919042,2	MCF-7	breast:

Variant related genes	Relation type
RAD51B	TF binding region
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10132981	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10454686	0.90[CEU][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11158737	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158742	1.00[JPT][hapmap]
rs12435006	1.00[JPT][hapmap]
rs12588330	1.00[JPT][hapmap]
rs12589872	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12897307	1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17755674	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1956538	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1964854	0.82[EUR][1000 genomes]
rs2064910	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2331703	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2331704	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2525507	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs2753403	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2842320	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs2877475	0.85[AMR][1000 genomes]
rs3784118	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3966077	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4899241	1.00[JPT][hapmap]
rs4899243	1.00[JPT][hapmap]
rs4902571	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4902580	1.00[JPT][hapmap]
rs4902581	1.00[JPT][hapmap]
rs4902582	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902587	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902588	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902589	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7145422	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8003606	1.00[CHB][hapmap]
rs8013026	0.90[CEU][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8015516	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs8019592	1.00[JPT][hapmap]
rs9323510	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9743896	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs975422	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[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	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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68863600-68877200	Enhancers	Primary B cells from peripheral blood	blood
2	chr14:68864800-68878000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:68865000-68877000	Weak transcription	Pancreas	Pancrea
4	chr14:68867200-68875200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:68867200-68876200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:68867200-68876400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr14:68867200-68886400	Weak transcription	Dnd41	blood
8	chr14:68868200-68887200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:68868400-68876000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:68870600-68875600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:68870800-68876000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:68870800-68877400	Enhancers	Primary B cells from cord blood	blood
13	chr14:68871200-68875600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:68871600-68876000	Weak transcription	Adipose Nuclei	Adipose
15	chr14:68871800-68875200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:68871800-68875600	Weak transcription	Fetal Muscle Leg	muscle
17	chr14:68871800-68875800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:68871800-68876000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr14:68871800-68876000	Weak transcription	Fetal Heart	heart
20	chr14:68871800-68876200	Weak transcription	Ovary	ovary
21	chr14:68871800-68876200	Weak transcription	Spleen	Spleen
22	chr14:68871800-68879000	Weak transcription	NH-A	brain
23	chr14:68871800-68880800	Weak transcription	Fetal Lung	lung
24	chr14:68872200-68875600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr14:68872200-68876200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:68872200-68877000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:68872200-68877200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:68872200-68883400	Weak transcription	Esophagus	oesophagus
29	chr14:68872800-68879400	Weak transcription	HUVEC	blood vessel
30	chr14:68873000-68875200	Weak transcription	Osteobl	bone
31	chr14:68873200-68875200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr14:68873200-68876800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:68873400-68875200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:68873400-68876000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:68873400-68878800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:68873400-68878800	Weak transcription	NHEK	skin
37	chr14:68873400-68883800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr14:68873600-68875400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr14:68874200-68875200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr14:68874200-68875400	Enhancers	Fetal Intestine Small	intestine
41	chr14:68874200-68875400	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr14:68874200-68876400	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr14:68874200-68876600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr14:68874200-68876600	Enhancers	GM12878-XiMat	blood
45	chr14:68874200-68879200	Enhancers	A549	lung
46	chr14:68874400-68875200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr14:68874400-68875200	Enhancers	Fetal Intestine Large	intestine
48	chr14:68874400-68875400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:68874400-68875800	Enhancers	HMEC	breast
50	chr14:68874400-68876400	Enhancers	Primary T cells fromperipheralblood	blood

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