Variant report

Variant	rs2288672
Chromosome Location	chr8:8860620-8860621
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8858968..8861271-chr8:9414006..9415764,2	K562	blood:
2	chr8:8860553..8862183-chr8:9011362..9013111,2	K562	blood:
3	chr8:8859472..8863506-chr8:8866779..8870820,4	MCF-7	breast:
4	chr8:8859158..8867027-chr8:8867199..8874373,17	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MFHAS1-2	chr8:8860171-8860681	NONHSAT124902

Variant related genes	Relation type
ENSG00000272267	Chromatin interaction
ENSG00000104626	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1036081	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11782281	0.91[CHB][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];0.86[EUR][1000 genomes]
rs12677456	0.81[EUR][1000 genomes]
rs12681075	1.00[CEU][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes]
rs12682403	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13257208	0.81[EUR][1000 genomes]
rs17155071	1.00[CEU][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs2044388	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2082210	0.90[JPT][hapmap];0.93[EUR][1000 genomes]
rs2084076	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2288669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288670	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288671	0.84[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs2409119	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28693452	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2915248	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2915251	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2915252	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2915253	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2921374	0.80[EUR][1000 genomes]
rs2921379	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2953800	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2953801	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2953808	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953809	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2956242	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2956243	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2956244	0.84[JPT][hapmap]
rs2979246	0.89[JPT][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2979249	0.81[EUR][1000 genomes]
rs2979250	0.81[EUR][1000 genomes]
rs2979256	0.90[JPT][hapmap]
rs2979260	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2979261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2979262	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2979263	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2979264	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2979265	0.83[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2979266	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35076339	0.90[EUR][1000 genomes]
rs4081881	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4433148	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4472520	0.83[ASN][1000 genomes]
rs4551361	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4601317	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4636210	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4841083	0.90[JPT][hapmap]
rs4841085	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55654856	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57552272	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58254294	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58604216	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60664964	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6422353	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67831654	0.90[EUR][1000 genomes]
rs68132987	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs68159296	0.86[EUR][1000 genomes]
rs6983008	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6983030	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6983503	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6983504	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6987223	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6987558	0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs6990532	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6992896	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6993244	0.85[ASN][1000 genomes]
rs7001457	0.83[EUR][1000 genomes]
rs7001518	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7006526	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7006798	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7007290	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7012685	0.81[EUR][1000 genomes]
rs7012954	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7012984	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73195758	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73195769	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73195777	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73195780	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73518370	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7357590	0.80[ASN][1000 genomes]
rs7357601	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7813388	0.84[CHB][hapmap]
rs7824140	0.84[EUR][1000 genomes]
rs7839585	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs9644673	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9644696	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs987537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs987538	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a
5	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8859600-8861000	Active TSS	Colon Smooth Muscle	Colon
2	chr8:8859600-8861400	Active TSS	A549	lung
3	chr8:8859600-8861600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:8859600-8862000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:8859600-8862000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr8:8859800-8860800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:8859800-8860800	Active TSS	Brain Cingulate Gyrus	brain
8	chr8:8859800-8861000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr8:8859800-8861000	Active TSS	Brain Angular Gyrus	brain
10	chr8:8859800-8861000	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr8:8859800-8861000	Active TSS	Duodenum Mucosa	Duodenum
12	chr8:8859800-8861000	Active TSS	Fetal Brain Male	brain
13	chr8:8859800-8861000	Active TSS	Fetal Lung	lung
14	chr8:8859800-8861000	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr8:8859800-8861200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:8859800-8861200	Active TSS	Brain Substantia Nigra	brain
17	chr8:8859800-8861200	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr8:8859800-8861200	Active TSS	Fetal Kidney	kidney
19	chr8:8859800-8861200	Active TSS	Fetal Muscle Trunk	muscle
20	chr8:8859800-8861200	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr8:8859800-8861200	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr8:8859800-8861200	Active TSS	HSMMtube	muscle
23	chr8:8859800-8861400	Active TSS	H1 Cell Line	embryonic stem cell
24	chr8:8859800-8861400	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr8:8859800-8861400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:8859800-8861400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:8859800-8861400	Active TSS	Right Ventricle	heart
28	chr8:8859800-8861400	Active TSS	NHLF	lung
29	chr8:8859800-8861600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr8:8859800-8861600	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr8:8859800-8861800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:8859800-8861800	Active TSS	Psoas Muscle	Psoas
33	chr8:8859800-8862000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:8859800-8862000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:8859800-8862000	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr8:8859800-8862000	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr8:8860000-8860800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:8860000-8860800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:8860000-8860800	Active TSS	Liver	Liver
40	chr8:8860000-8860800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
41	chr8:8860000-8861000	Active TSS	Brain Anterior Caudate	brain
42	chr8:8860000-8861000	Active TSS	Fetal Brain Female	brain
43	chr8:8860000-8861000	Active TSS	Fetal Intestine Small	intestine
44	chr8:8860000-8861000	Active TSS	Rectal Smooth Muscle	rectum
45	chr8:8860000-8861200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:8860000-8861200	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr8:8860000-8861200	Active TSS	Aorta	Aorta
48	chr8:8860000-8861200	Active TSS	Fetal Heart	heart
49	chr8:8860000-8861200	Active TSS	Placenta	Placenta
50	chr8:8860000-8861200	Active TSS	Fetal Stomach	stomach

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