Variant report

Variant	rs11849344
Chromosome Location	chr14:68993162-68993163
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68990794..68994075-chr14:69256455..69260885,5	MCF-7	breast:
2	chr14:68982120..68984316-chr14:68992913..68995083,2	MCF-7	breast:
3	chr14:68987292..68989067-chr14:68991224..68994887,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10130177	0.94[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134240	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137367	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147979	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148391	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483810	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10483811	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483814	1.00[CHB][hapmap]
rs17105810	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105812	0.83[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105828	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105829	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17829180	1.00[CHB][hapmap]
rs17829192	1.00[CHB][hapmap]
rs28377700	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2842339	1.00[CHB][hapmap]
rs28454359	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28492919	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28558877	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28671277	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59404246	1.00[ASN][1000 genomes]
rs6573841	0.89[CEU][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs72727502	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729521	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016149	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs8017678	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323515	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv1048064	chr14:68991041-69012766	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11849344	FAM71D	cis	parietal	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68985800-68994800	Weak transcription	Aorta	Aorta
2	chr14:68986000-68993400	Weak transcription	Brain Angular Gyrus	brain
3	chr14:68987400-68993600	Enhancers	HSMM	muscle
4	chr14:68987400-68996200	Enhancers	Pancreas	Pancrea
5	chr14:68987600-68993400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr14:68988200-68993600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr14:68988400-68993400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr14:68988600-68993800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:68988800-68993400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:68989200-68993200	Weak transcription	Psoas Muscle	Psoas
11	chr14:68989600-68993200	Weak transcription	Gastric	stomach
12	chr14:68989800-68993800	Weak transcription	Primary B cells from cord blood	blood
13	chr14:68990000-68994200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:68990000-68995400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr14:68990000-68995600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:68990000-68996000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr14:68990200-68993200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:68990200-68993200	Weak transcription	Brain Anterior Caudate	brain
19	chr14:68990200-68993200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr14:68990200-68993400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:68990200-68993400	Weak transcription	Right Ventricle	heart
22	chr14:68990200-68993800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr14:68990200-68993800	Enhancers	HSMMtube	muscle
24	chr14:68990400-68993200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:68990400-68993200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:68990400-68993600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr14:68991000-68993200	Weak transcription	Brain Substantia Nigra	brain
28	chr14:68991000-68993200	Weak transcription	Left Ventricle	heart
29	chr14:68991200-68993200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr14:68991200-68993400	Weak transcription	Brain Hippocampus Middle	brain
31	chr14:68991200-68994000	Weak transcription	Fetal Lung	lung
32	chr14:68991400-68993200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:68991400-68993200	Weak transcription	Adipose Nuclei	Adipose
34	chr14:68991400-68993200	Weak transcription	Colonic Mucosa	Colon
35	chr14:68991400-68993200	Weak transcription	Esophagus	oesophagus
36	chr14:68991400-68993400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr14:68991600-68993200	Weak transcription	Colon Smooth Muscle	Colon
38	chr14:68991600-68994400	Enhancers	Lung	lung
39	chr14:68991800-68993200	Weak transcription	Placenta	Placenta
40	chr14:68991800-68993200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr14:68991800-68993200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr14:68991800-68993200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr14:68991800-68993400	Weak transcription	Fetal Stomach	stomach
44	chr14:68991800-68993400	Weak transcription	Right Atrium	heart
45	chr14:68991800-68994000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:68991800-68994200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:68991800-68994200	Weak transcription	Thymus	Thymus
48	chr14:68992000-68993200	Weak transcription	Fetal Muscle Leg	muscle
49	chr14:68992000-68994000	Weak transcription	NHLF	lung
50	chr14:68992400-68993400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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