Variant report

Variant	rs6601331
Chromosome Location	chr8:9417583-9417584
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:9417339..9419648-chr8:9420224..9422895,3	K562	blood:
2	chr8:9413652..9415403-chr8:9416185..9419439,4	MCF-7	breast:
3	chr8:9413105..9415000-chr8:9415531..9419993,5	K562	blood:

Variant related genes	Relation type
ENSG00000173273	Chromatin interaction
ENSG00000272267	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10087012	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10087166	0.94[CEU][hapmap];0.95[CHB][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10087749	0.81[EUR][1000 genomes]
rs10088037	0.81[EUR][1000 genomes]
rs10088039	0.81[EUR][1000 genomes]
rs10088401	0.81[EUR][1000 genomes]
rs10088969	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10097438	0.81[EUR][1000 genomes]
rs10098758	0.94[CEU][hapmap];0.82[CHB][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10101953	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10102030	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10103426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10103752	0.81[EUR][1000 genomes]
rs10111980	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10112600	0.81[EUR][1000 genomes]
rs10112821	0.81[EUR][1000 genomes]
rs10503380	0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10794712	0.89[CEU][hapmap];0.91[CHB][hapmap]
rs10903314	0.82[CEU][hapmap];0.91[CHB][hapmap];0.82[YRI][hapmap]
rs10903315	0.81[YRI][hapmap]
rs11249931	0.83[CEU][hapmap];0.91[CHB][hapmap]
rs11249938	0.94[CEU][hapmap]
rs11249942	0.89[CEU][hapmap]
rs11779335	0.88[CEU][hapmap]
rs11984585	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11985349	0.94[CEU][hapmap];0.87[CHB][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11993506	0.83[CEU][hapmap];0.91[CHB][hapmap];0.83[YRI][hapmap];0.81[EUR][1000 genomes]
rs11994420	0.83[CEU][hapmap];0.91[CHB][hapmap];0.83[YRI][hapmap];0.81[EUR][1000 genomes]
rs11995920	0.94[CEU][hapmap];0.95[CHB][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12541409	0.91[EUR][1000 genomes]
rs12541617	0.81[CEU][hapmap]
rs12543534	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12545912	0.88[CEU][hapmap]
rs12548306	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12674762	0.82[CEU][hapmap];0.91[CHB][hapmap];0.89[YRI][hapmap]
rs12675476	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12675511	0.94[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12675893	0.82[CEU][hapmap];0.91[CHB][hapmap];0.90[YRI][hapmap]
rs12676898	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12679892	0.95[CHB][hapmap]
rs12681719	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13249683	0.87[CEU][hapmap]
rs13262577	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs13271097	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13273033	0.88[CEU][hapmap]
rs17150237	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28622033	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28668310	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28695930	0.81[EUR][1000 genomes]
rs33945943	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34206126	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34324628	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34790717	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4128199	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4240626	0.82[CEU][hapmap];0.91[CHB][hapmap];0.82[YRI][hapmap]
rs4240629	0.89[CEU][hapmap];0.91[CHB][hapmap]
rs4282575	0.81[EUR][1000 genomes]
rs4398920	0.82[CEU][hapmap];0.90[CHB][hapmap]
rs4407883	0.83[CEU][hapmap];0.91[CHB][hapmap];0.90[YRI][hapmap];0.81[EUR][1000 genomes]
rs4493905	0.81[EUR][1000 genomes]
rs4535744	0.89[CEU][hapmap]
rs4568626	0.81[EUR][1000 genomes]
rs4582568	0.81[EUR][1000 genomes]
rs4626603	0.88[CEU][hapmap]
rs4840427	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs4840428	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4841173	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4841174	1.00[CEU][hapmap];0.91[CHB][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4841175	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4841179	0.82[CEU][hapmap];0.91[CHB][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes]
rs4841197	0.83[CEU][hapmap];0.90[CHB][hapmap]
rs4841212	0.88[CEU][hapmap]
rs55917145	0.81[EUR][1000 genomes]
rs57453266	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58238328	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61551896	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62493868	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6601330	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6601332	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6601333	0.94[CEU][hapmap];0.86[CHB][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6601334	0.93[CEU][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6601335	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6601336	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6601337	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6651495	0.81[EUR][1000 genomes]
rs6651496	0.81[EUR][1000 genomes]
rs6651502	0.81[EUR][1000 genomes]
rs66516712	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67706102	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6980831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6986386	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6989126	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6990097	0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6990590	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7010270	0.88[CEU][hapmap];0.91[CHB][hapmap]
rs7013500	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73193784	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7461376	0.89[CEU][hapmap]
rs7462102	0.81[EUR][1000 genomes]
rs7462910	0.88[CEU][hapmap]
rs7464185	0.81[EUR][1000 genomes]
rs7814014	1.00[CEU][hapmap];0.91[CHB][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7815817	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7821559	0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7822548	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7822904	0.88[CEU][hapmap]
rs7832096	0.88[CEU][hapmap];0.91[CHB][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes]
rs7834823	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7844450	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7846140	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9329202	0.82[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9329203	0.82[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9644677	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9650638	0.89[CEU][hapmap];0.95[CHB][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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1033031	chr8:9310266-9418941	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9414400-9420600	Weak transcription	Esophagus	oesophagus
2	chr8:9414400-9459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:9414600-9417600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:9414600-9417600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr8:9414800-9417600	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr8:9414800-9418000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr8:9414800-9418800	Weak transcription	Ovary	ovary
8	chr8:9414800-9419200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:9414800-9427800	Weak transcription	Right Ventricle	heart
10	chr8:9415000-9435400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:9415800-9419200	Active TSS	GM12878-XiMat	blood
12	chr8:9415800-9421600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:9415800-9434800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:9416000-9432400	Weak transcription	Primary B cells from cord blood	blood
15	chr8:9416000-9434600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr8:9416200-9419200	Enhancers	Brain Hippocampus Middle	brain
17	chr8:9416200-9420600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:9416200-9432600	Weak transcription	Fetal Intestine Small	intestine
19	chr8:9416200-9434200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:9416400-9420000	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:9416400-9421000	Weak transcription	NH-A	brain
22	chr8:9416400-9424800	Weak transcription	NHEK	skin
23	chr8:9416400-9426800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:9416600-9430200	Weak transcription	Brain Substantia Nigra	brain
25	chr8:9416800-9417600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:9416800-9418200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:9416800-9419400	Weak transcription	HUVEC	blood vessel
28	chr8:9417000-9417600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:9417000-9417600	Enhancers	Fetal Brain Female	brain
30	chr8:9417000-9418200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:9417000-9418600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:9417000-9421600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr8:9417000-9434600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:9417200-9417600	Enhancers	Dnd41	blood
35	chr8:9417200-9417600	Enhancers	HepG2	liver
36	chr8:9417200-9418200	Weak transcription	Brain Germinal Matrix	brain
37	chr8:9417200-9418400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr8:9417200-9418600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr8:9417200-9418600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:9417200-9418600	Weak transcription	Brain Anterior Caudate	brain
41	chr8:9417200-9418800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:9417200-9421000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr8:9417200-9421600	Weak transcription	Liver	Liver
44	chr8:9417200-9421600	Weak transcription	Brain Angular Gyrus	brain
45	chr8:9417200-9425200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:9417200-9426600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:9417200-9427800	Weak transcription	Psoas Muscle	Psoas
48	chr8:9417200-9430000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr8:9417200-9434400	Weak transcription	Primary T cells from cord blood	blood
50	chr8:9417200-9450000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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