Variant report

Variant	rs6601338
Chromosome Location	chr8:9438928-9438929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9429502..9433679-chr8:9438178..9440926,4	K562	blood:

Variant related genes	Relation type
ENSG00000173273	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10092751	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10094989	0.91[CEU][hapmap]
rs10102030	0.80[YRI][hapmap]
rs10102170	0.90[CEU][hapmap]
rs10109026	0.88[CEU][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10111376	0.80[CEU][hapmap]
rs11249934	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs11785458	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12155819	0.91[CEU][hapmap]
rs12156017	0.82[AMR][1000 genomes]
rs12542457	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12542912	0.92[CEU][hapmap]
rs12545250	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12547642	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12676193	0.81[AMR][1000 genomes]
rs12677507	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12682175	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13276086	0.81[CEU][hapmap]
rs1394	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1458942	0.81[AMR][1000 genomes]
rs33994795	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4075359	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs4128198	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4129360	0.91[CEU][hapmap]
rs4422774	0.86[EUR][1000 genomes]
rs4554469	0.82[EUR][1000 genomes]
rs4610751	0.82[CHB][hapmap]
rs4840425	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4840426	0.82[CEU][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4841196	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6601327	0.83[JPT][hapmap]
rs6601340	0.86[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6982148	0.91[CEU][hapmap]
rs6990418	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6994574	0.91[CEU][hapmap]
rs7004937	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7461939	0.91[CEU][hapmap]
rs7822700	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs7834823	0.80[YRI][hapmap]
rs7835002	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7846399	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9644704	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]

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	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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9414400-9459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:9417200-9450000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:9424800-9440000	Weak transcription	Fetal Lung	lung
4	chr8:9427400-9450000	Weak transcription	Thymus	Thymus
5	chr8:9428200-9466200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:9428400-9450000	Weak transcription	Psoas Muscle	Psoas
7	chr8:9429000-9450000	Weak transcription	Fetal Kidney	kidney
8	chr8:9430200-9442400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:9430200-9449800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:9430600-9440400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:9431000-9440000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:9431000-9447000	Weak transcription	Brain Substantia Nigra	brain
13	chr8:9431000-9448800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:9431000-9449400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:9431000-9450000	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:9432000-9444400	Weak transcription	NHEK	skin
17	chr8:9432000-9448200	Weak transcription	Fetal Brain Male	brain
18	chr8:9433600-9461000	Weak transcription	Fetal Stomach	stomach
19	chr8:9434800-9439000	Weak transcription	GM12878-XiMat	blood
20	chr8:9434800-9459000	Weak transcription	Primary B cells from cord blood	blood
21	chr8:9435200-9439000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr8:9435200-9444000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:9435200-9446000	Weak transcription	Fetal Thymus	thymus
24	chr8:9435200-9448800	Weak transcription	HUVEC	blood vessel
25	chr8:9435400-9439000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr8:9435400-9439600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr8:9435400-9448800	Weak transcription	NHLF	lung
28	chr8:9435400-9449800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr8:9435400-9465600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:9435400-9468400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:9435600-9448800	Weak transcription	A549	lung
32	chr8:9435600-9449000	Weak transcription	Liver	Liver
33	chr8:9435600-9449600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:9435600-9450000	Weak transcription	Small Intestine	intestine
35	chr8:9435600-9457600	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:9435600-9472400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:9435800-9440200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:9435800-9442000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr8:9435800-9442000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:9435800-9442000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:9435800-9442000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:9435800-9442200	Weak transcription	Aorta	Aorta
43	chr8:9435800-9442600	Weak transcription	Placenta	Placenta
44	chr8:9435800-9446000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr8:9435800-9447000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:9435800-9447400	Weak transcription	Gastric	stomach
47	chr8:9435800-9447400	Weak transcription	Ovary	ovary
48	chr8:9435800-9447400	Weak transcription	Right Atrium	heart
49	chr8:9435800-9448800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:9435800-9448800	Weak transcription	Spleen	Spleen

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