Variant report

Variant	rs8548
Chromosome Location	chr14:104199580-104199581
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104190417..104195099-chr14:104198034..104202895,6	MCF-7	breast:
2	chr14:104199198..104202144-chr14:104204016..104205906,2	K562	blood:
3	chr14:104195134..104197407-chr14:104197892..104201943,5	MCF-7	breast:
4	chr14:104193655..104196381-chr14:104198015..104200284,3	K562	blood:
5	chr14:104195030..104198558-chr14:104199394..104203156,3	MCF-7	breast:
6	chr14:104178942..104181016-chr14:104198223..104200771,2	K562	blood:

Variant related genes	Relation type
ENSG00000100711	Chromatin interaction
ENSG00000253096	Chromatin interaction
ENSG00000269963	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000088808	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10138768	0.84[CEU][hapmap]
rs10438244	1.00[YRI][hapmap]
rs11160771	1.00[YRI][hapmap]
rs1155751	0.85[CHB][hapmap]
rs11625740	0.83[CHB][hapmap]
rs1187417	0.84[CEU][hapmap];0.89[CHB][hapmap];0.84[AMR][1000 genomes]
rs12588797	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs12879529	0.81[AMR][1000 genomes]
rs12880821	0.85[CHB][hapmap]
rs12883337	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12885509	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs12886637	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12888002	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12890354	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12893623	0.81[AMR][1000 genomes]
rs12894657	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17791722	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs2368560	0.85[CHB][hapmap]
rs34596177	0.85[AMR][1000 genomes]
rs35085624	0.84[AMR][1000 genomes]
rs3742366	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3861678	0.92[CEU][hapmap];0.94[CHB][hapmap]
rs4900594	0.84[CHB][hapmap]
rs4900597	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs4906363	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4906364	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4906376	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs4906377	0.84[AMR][1000 genomes]
rs4906379	0.92[CEU][hapmap];0.94[CHB][hapmap];0.81[AMR][1000 genomes]
rs56168984	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6576006	0.80[AMR][1000 genomes]
rs6576007	0.92[CEU][hapmap];0.94[CHB][hapmap];0.80[AMR][1000 genomes]
rs66676135	0.83[AMR][1000 genomes]
rs66953418	0.84[AMR][1000 genomes]
rs7142769	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7143885	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7156834	0.84[CHB][hapmap]
rs722637	0.92[CEU][hapmap];0.89[CHB][hapmap];0.80[EUR][1000 genomes]
rs881056	1.00[YRI][hapmap]
rs881057	1.00[YRI][hapmap]
rs9888591	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv902308	chr14:104087209-104211180	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
8	nsv902310	chr14:104143385-104205811	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
10	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
11	nsv902311	chr14:104148339-104205811	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv902312	chr14:104155317-104211180	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv470673	chr14:104162263-104219949	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8548	RP11-73M18.8	cis	Whole Blood	GTEx
rs8548	RP11-73M18.8	cis	Artery Tibial	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104183400-104200600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:104184000-104201200	Weak transcription	HUVEC	blood vessel
3	chr14:104184000-104209000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:104184200-104214400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:104184400-104211000	Weak transcription	Hela-S3	cervix
6	chr14:104189400-104203200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr14:104190600-104199600	Strong transcription	Dnd41	blood
8	chr14:104190600-104202000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:104190800-104204200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:104191000-104202000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:104191000-104202200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:104191000-104203200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:104191200-104209200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:104191400-104201400	Strong transcription	Fetal Stomach	stomach
15	chr14:104191400-104201600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:104191600-104223800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:104191800-104201600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr14:104192000-104201000	Strong transcription	NHLF	lung
19	chr14:104192200-104200400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr14:104192200-104201000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr14:104192200-104201600	Strong transcription	Placenta	Placenta
22	chr14:104192200-104216600	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:104193200-104200000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:104193400-104201400	Strong transcription	Fetal Muscle Leg	muscle
25	chr14:104194000-104200200	Strong transcription	Aorta	Aorta
26	chr14:104194000-104200400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:104194000-104201000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:104194000-104201600	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr14:104194000-104209200	Strong transcription	Fetal Intestine Large	intestine
30	chr14:104194200-104201600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr14:104194200-104205600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:104194200-104211400	Strong transcription	Colonic Mucosa	Colon
33	chr14:104194200-104220400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr14:104194400-104208800	Strong transcription	Primary T cells from cord blood	blood
35	chr14:104194600-104206800	Strong transcription	Brain Germinal Matrix	brain
36	chr14:104194800-104201000	Strong transcription	HepG2	liver
37	chr14:104194800-104201400	Strong transcription	Lung	lung
38	chr14:104194800-104209200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr14:104194800-104209200	Strong transcription	Fetal Intestine Small	intestine
40	chr14:104194800-104212000	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr14:104195000-104200200	Strong transcription	A549	lung
42	chr14:104195000-104201000	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr14:104195200-104200200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr14:104195200-104200600	Strong transcription	Brain Cingulate Gyrus	brain
45	chr14:104195800-104215200	Weak transcription	HSMM	muscle
46	chr14:104196000-104200600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:104196000-104201200	Strong transcription	Brain Anterior Caudate	brain
48	chr14:104196000-104214200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr14:104196000-104268000	Weak transcription	Small Intestine	intestine
50	chr14:104196200-104200000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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