Variant report

Variant	rs765899
Chromosome Location	chr14:68963746-68963747
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68963025..68965072-chr14:68977283..68978864,2	K562	blood:
2	chr14:68933425..68935782-chr14:68963190..68965749,2	MCF-7	breast:
3	chr14:68960367..68962165-chr14:68962377..68965286,2	MCF-7	breast:
4	chr14:68958814..68961806-chr14:68963005..68965065,2	K562	blood:
5	chr14:68957700..68966900-chr14:68968037..68976020,15	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11158748	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12435914	0.84[MKK][hapmap]
rs2074562	0.84[GIH][hapmap]
rs2331706	0.89[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2525510	0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2525511	0.91[ASN][1000 genomes]
rs2717217	0.84[GIH][hapmap]
rs2842315	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3784130	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3784131	0.86[JPT][hapmap]
rs4899244	1.00[GIH][hapmap];0.95[JPT][hapmap]
rs7142882	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs737387	0.90[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs739872	0.81[AMR][1000 genomes];0.92[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

Variant related diseases (count:1)

Disease	PMID	Source
Breast cancer	23468962	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs765899	FAM71D	cis	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68944400-68968200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:68950600-68968200	Weak transcription	Gastric	stomach
3	chr14:68951000-68969400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:68952000-68967600	Weak transcription	Thymus	Thymus
5	chr14:68955200-68967600	Weak transcription	Placenta	Placenta
6	chr14:68955400-68967600	Weak transcription	Pancreas	Pancrea
7	chr14:68956800-68971800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:68957600-68965600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:68958600-68967800	Weak transcription	Ovary	ovary
10	chr14:68960200-68968200	Weak transcription	Fetal Intestine Small	intestine
11	chr14:68960200-68969600	Weak transcription	Fetal Intestine Large	intestine
12	chr14:68960400-68969600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:68960400-68971000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:68960400-68971400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:68960400-68971600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:68960400-68971800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:68961000-68963800	Enhancers	Fetal Thymus	thymus
18	chr14:68961800-68965200	Weak transcription	Fetal Heart	heart
19	chr14:68962000-68972000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:68962200-68965800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:68962200-68969400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr14:68962200-68971000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:68962400-68967600	Weak transcription	Adipose Nuclei	Adipose
24	chr14:68962400-68967800	Weak transcription	Esophagus	oesophagus
25	chr14:68962800-68967800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr14:68962800-68968000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:68962800-68968600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:68962800-68972600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:68963000-68967800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr14:68963000-68968200	Weak transcription	Primary B cells from cord blood	blood
31	chr14:68963200-68965200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:68963200-68965400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:68963200-68965400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:68963200-68965600	Weak transcription	Primary T cells from cord blood	blood
35	chr14:68963200-68966000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr14:68963200-68966400	Weak transcription	Spleen	Spleen
37	chr14:68963200-68967400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr14:68963200-68967400	Weak transcription	Fetal Muscle Leg	muscle
39	chr14:68963200-68967600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr14:68963200-68972600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:68963400-68965000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:68963400-68965200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr14:68963400-68965800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr14:68963400-68967000	Weak transcription	HUVEC	blood vessel
45	chr14:68963400-68967400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr14:68963400-68967400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr14:68963400-68967600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr14:68963400-68967600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr14:68963400-68967600	Weak transcription	Lung	lung
50	chr14:68963400-68968000	Weak transcription	Fetal Lung	lung

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