Variant report

Variant	rs6573834
Chromosome Location	chr14:68808398-68808399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12889206	0.87[ASW][hapmap];0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1570106	0.87[ASW][hapmap];0.93[CEU][hapmap];0.93[MKK][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1810623	0.94[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2208397	0.90[GIH][hapmap]
rs2331703	1.00[MEX][hapmap]
rs2331704	1.00[MEX][hapmap]
rs2525507	1.00[MEX][hapmap]
rs2588827	0.85[MEX][hapmap]
rs2753403	0.86[MEX][hapmap]
rs2842320	0.86[MEX][hapmap]
rs4899243	0.85[MEX][hapmap]
rs4902564	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4902567	0.94[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902571	1.00[MEX][hapmap]
rs7150454	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160221	0.93[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72727425	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003738	0.94[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008961	0.90[GIH][hapmap]
rs8009876	1.00[MEX][hapmap]
rs8015516	0.86[MEX][hapmap]

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	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6573834	MTHFD1	cis	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68769000-68810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68785600-68812400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:68789600-68810400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:68800000-68808400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:68804000-68810400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:68804000-68813400	Weak transcription	Colon Smooth Muscle	Colon
7	chr14:68804400-68812800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:68805000-68808800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr14:68805200-68808400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:68806200-68811200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:68806400-68808800	Enhancers	GM12878-XiMat	blood
12	chr14:68806400-68810800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr14:68806400-68810800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr14:68806400-68810800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr14:68806400-68811000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr14:68806600-68809600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr14:68806800-68809600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:68807000-68808800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:68807000-68809000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr14:68807000-68809600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr14:68807000-68811000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr14:68807000-68811000	Enhancers	Primary B cells from peripheral blood	blood
23	chr14:68807200-68810600	Weak transcription	Gastric	stomach
24	chr14:68807400-68808600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:68807400-68809400	Enhancers	Primary B cells from cord blood	blood
26	chr14:68807600-68809200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr14:68807600-68811000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr14:68807800-68810000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr14:68808000-68809200	Enhancers	Fetal Lung	lung
30	chr14:68808000-68809400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr14:68808000-68809400	Enhancers	Fetal Stomach	stomach
32	chr14:68808200-68808600	Enhancers	Primary hematopoietic stem cells	blood
33	chr14:68808200-68808600	Enhancers	Fetal Muscle Leg	muscle
34	chr14:68808200-68809000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr14:68808200-68809200	Enhancers	Fetal Intestine Small	intestine
36	chr14:68808200-68809200	Enhancers	Left Ventricle	heart
37	chr14:68808200-68809400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:68808200-68809400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr14:68808200-68809400	Enhancers	Fetal Heart	heart
40	chr14:68808200-68809600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr14:68808200-68809600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:68808200-68809600	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr14:68808200-68811000	Enhancers	Primary T cells from cord blood	blood
44	chr14:68808200-68811000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr14:68808200-68811200	Enhancers	Fetal Thymus	thymus

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