Variant report

Variant	rs2877461
Chromosome Location	chr14:68837882-68837883
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68762186..68763785-chr14:68835933..68838627,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11158732	0.88[CEU][hapmap]
rs11625452	0.85[CEU][hapmap];0.83[TSI][hapmap]
rs11627490	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11628653	0.85[CEU][hapmap]
rs1885014	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1956537	0.84[CHD][hapmap]
rs1977211	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2009721	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2025009	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.97[ASN][1000 genomes]
rs2208396	0.91[EUR][1000 genomes]
rs2331693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784115	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784120	0.84[CHD][hapmap]
rs3950069	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55749276	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58339869	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59993918	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61039700	0.83[EUR][1000 genomes]
rs61986905	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs61986906	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61986910	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013236	0.80[CEU][hapmap]
rs8014025	0.89[CEU][hapmap];0.91[TSI][hapmap]
rs8014234	0.88[CEU][hapmap]
rs8018477	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8021199	1.00[CEU][hapmap];0.83[YRI][hapmap];0.83[EUR][1000 genomes]
rs927221	0.83[CHD][hapmap];0.86[JPT][hapmap];0.81[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	nsv564962	chr14:68795209-68837882	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2877461	CHURC1	cis	parietal	SCAN
rs2877461	MED6	cis	cerebellum	SCAN
rs2877461	DCAF5	cis	parietal	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68831800-68838400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr14:68831800-68841600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:68831800-68844200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:68832000-68843200	Weak transcription	Placenta	Placenta
5	chr14:68832000-68843800	Weak transcription	Ovary	ovary
6	chr14:68832000-68844200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:68832000-68851600	Weak transcription	Lung	lung
8	chr14:68832200-68838600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:68832200-68841600	Weak transcription	Pancreas	Pancrea
10	chr14:68832200-68844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:68832200-68844200	Weak transcription	Brain Germinal Matrix	brain
12	chr14:68833000-68845200	Enhancers	Primary B cells from peripheral blood	blood
13	chr14:68833400-68838600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr14:68833600-68842200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:68833800-68838400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:68833800-68838800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:68834000-68838200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:68834000-68843400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr14:68834400-68841400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:68834400-68846400	Weak transcription	Fetal Heart	heart
21	chr14:68834600-68838400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:68834600-68838600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:68834600-68842200	Weak transcription	HSMM	muscle
24	chr14:68835000-68841600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:68835200-68840200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr14:68835200-68843600	Weak transcription	Brain Anterior Caudate	brain
27	chr14:68835400-68840000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr14:68835600-68843800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:68836400-68839800	Enhancers	Primary B cells from cord blood	blood
30	chr14:68836400-68840800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr14:68836400-68843200	Weak transcription	Spleen	Spleen
32	chr14:68836400-68847000	Weak transcription	Aorta	Aorta
33	chr14:68836600-68840800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr14:68836600-68840800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr14:68836600-68842000	Weak transcription	Thymus	Thymus
36	chr14:68836800-68838600	Weak transcription	Primary T cells from cord blood	blood
37	chr14:68836800-68840800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr14:68836800-68843200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:68836800-68843800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr14:68837000-68840800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr14:68837000-68841400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr14:68837200-68840600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr14:68837200-68842400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:68837200-68843000	Weak transcription	Brain Substantia Nigra	brain
45	chr14:68837200-68843200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:68837400-68838200	Weak transcription	Fetal Muscle Leg	muscle
47	chr14:68837400-68838400	Enhancers	GM12878-XiMat	blood
48	chr14:68837400-68838400	Weak transcription	HepG2	liver
49	chr14:68837400-68838600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:68837400-68838800	Weak transcription	Liver	Liver

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