Variant report

Variant	rs2717217
Chromosome Location	chr14:68947332-68947333
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68946983..68949928-chr14:68952224..68954178,2	K562	blood:
2	chr14:68945809..68947631-chr14:68949133..68950945,2	K562	blood:
3	chr14:68947089..68949808-chr14:68953310..68954848,2	MCF-7	breast:
4	chr14:68941036..68943975-chr14:68946841..68948622,2	MCF-7	breast:
5	chr14:68549698..68551582-chr14:68946778..68949306,2	MCF-7	breast:
6	chr14:68930492..68947840-chr14:69251918..69264148,62	MCF-7	breast:
7	chr14:68946730..68948878-chr14:68952615..68954751,2	K562	blood:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10130683	0.88[ASN][1000 genomes]
rs10133813	0.82[JPT][hapmap]
rs10138140	0.82[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs10139107	0.82[JPT][hapmap]
rs10146058	0.82[JPT][hapmap]
rs10149340	0.85[ASN][1000 genomes]
rs10467820	0.82[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs12435914	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12587397	0.82[JPT][hapmap]
rs12886429	0.82[JPT][hapmap]
rs12886864	0.82[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs1468279	0.82[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs17105561	0.81[JPT][hapmap]
rs17105571	0.87[CEU][hapmap]
rs2040783	0.91[ASN][1000 genomes]
rs2074562	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2074563	0.82[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2074564	0.89[ASN][1000 genomes]
rs2074565	0.81[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2093202	0.89[ASN][1000 genomes]
rs2097800	0.82[CHD][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs2107340	0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2331706	0.84[GIH][hapmap]
rs2753404	0.82[JPT][hapmap]
rs2842322	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3784124	0.89[ASN][1000 genomes]
rs4411448	0.89[ASN][1000 genomes]
rs4899244	0.84[GIH][hapmap]
rs4902579	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs4902583	0.86[CEU][hapmap];0.81[JPT][hapmap]
rs4902594	0.81[ASN][1000 genomes]
rs4902595	0.82[JPT][hapmap]
rs5004090	0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs61986936	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6573837	0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs765899	0.84[GIH][hapmap]
rs9323512	0.85[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2717217	FAM71D	cis	parietal	SCAN
rs2717217	ACTN1	cis	parietal	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68928600-68949000	Weak transcription	Thymus	Thymus
2	chr14:68932200-68950000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:68933600-68950600	Weak transcription	Aorta	Aorta
4	chr14:68936000-68947600	Weak transcription	Primary T cells from cord blood	blood
5	chr14:68939000-68947400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr14:68939000-68951600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:68940200-68949400	Weak transcription	Fetal Lung	lung
8	chr14:68943200-68949000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:68943400-68951600	Enhancers	Placenta	Placenta
10	chr14:68943600-68949600	Weak transcription	Fetal Kidney	kidney
11	chr14:68943800-68949000	Weak transcription	Colon Smooth Muscle	Colon
12	chr14:68943800-68950000	Weak transcription	Fetal Heart	heart
13	chr14:68943800-68957400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:68944000-68949200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr14:68944000-68950200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:68944000-68950400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:68944000-68959200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr14:68944200-68947400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr14:68944200-68948800	Weak transcription	Stomach Mucosa	stomach
20	chr14:68944200-68949600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:68944200-68949600	Weak transcription	Fetal Thymus	thymus
22	chr14:68944200-68949800	Weak transcription	Spleen	Spleen
23	chr14:68944200-68950200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr14:68944200-68950200	Weak transcription	Gastric	stomach
25	chr14:68944200-68950800	Weak transcription	Osteobl	bone
26	chr14:68944200-68951800	Weak transcription	Liver	Liver
27	chr14:68944200-68953600	Weak transcription	Right Atrium	heart
28	chr14:68944200-68955000	Weak transcription	Esophagus	oesophagus
29	chr14:68944200-68957400	Weak transcription	Fetal Muscle Leg	muscle
30	chr14:68944400-68949600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:68944400-68949600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:68944400-68968200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:68944600-68948800	Weak transcription	Fetal Stomach	stomach
34	chr14:68944600-68949400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:68944600-68957400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr14:68944800-68947400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr14:68944800-68949800	Weak transcription	NHDF-Ad	bronchial
38	chr14:68944800-68953800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr14:68945000-68951200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr14:68945200-68950000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr14:68945400-68949200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:68945400-68951800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr14:68945400-68959600	Weak transcription	Primary B cells from cord blood	blood
44	chr14:68945600-68950200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:68946000-68950200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:68946200-68949600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr14:68946200-68950200	Weak transcription	HUVEC	blood vessel
48	chr14:68946400-68948800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:68946400-68949400	Weak transcription	HMEC	breast
50	chr14:68946400-68949600	Weak transcription	K562	blood

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