Variant report

Variant	rs6985934
Chromosome Location	chr8:90975550-90975551
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90969741..90972805-chr8:90974123..90977910,4	K562	blood:
2	chr8:90974711..90977357-chr8:90995076..90998424,3	MCF-7	breast:
3	chr8:90975533..90977445-chr8:90980488..90983211,2	K562	blood:
4	chr8:90973526..90975727-chr8:90986734..90988987,2	MCF-7	breast:
5	chr8:90965529..90967195-chr8:90975050..90977026,2	MCF-7	breast:
6	chr8:90894970..90897311-chr8:90974540..90976515,2	K562	blood:
7	chr8:90973689..90975982-chr8:90985105..90986912,2	K562	blood:
8	chr8:90975334..90977907-chr8:90996289..90998070,2	K562	blood:
9	chr8:90955116..90956985-chr8:90972344..90976396,3	K562	blood:
10	chr8:90972576..90976276-chr8:90995328..90998073,3	K562	blood:
11	chr8:90975523..90977214-chr8:90977319..90979000,2	K562	blood:
12	chr8:90972565..90976649-chr8:90976660..90979735,4	MCF-7	breast:
13	chr8:90957962..90962129-chr8:90974305..90978101,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10090863	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10096580	0.84[EUR][1000 genomes]
rs10504885	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12541412	1.00[CEU][hapmap]
rs12541460	1.00[CEU][hapmap]
rs13312969	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs13312970	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs16901369	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs16901430	1.00[CEU][hapmap]
rs16901433	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs16902897	1.00[CEU][hapmap]
rs1805825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1805861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1805872	1.00[CEU][hapmap]
rs1805875	1.00[CEU][hapmap]
rs1805884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1805905	1.00[CEU][hapmap]
rs2023554	1.00[CEU][hapmap]
rs2280778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28371401	0.84[EUR][1000 genomes]
rs28486026	0.84[EUR][1000 genomes]
rs3026278	0.90[YRI][hapmap]
rs3026296	1.00[CEU][hapmap]
rs3736640	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57266874	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58089858	0.85[ASN][1000 genomes]
rs58321776	0.84[EUR][1000 genomes]
rs58573572	0.84[EUR][1000 genomes]
rs58922279	0.84[EUR][1000 genomes]
rs60259111	0.84[EUR][1000 genomes]
rs60938698	0.84[EUR][1000 genomes]
rs66854331	0.84[EUR][1000 genomes]
rs6996173	0.84[EUR][1000 genomes]
rs7005991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7006318	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73304457	0.84[EUR][1000 genomes]
rs73304468	0.84[EUR][1000 genomes]
rs73304476	0.84[EUR][1000 genomes]
rs73304479	0.84[EUR][1000 genomes]
rs73304487	0.84[EUR][1000 genomes]
rs9297757	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs9656966	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs989385	1.00[CEU][hapmap];0.84[EUR][1000 genomes]

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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90915800-90995000	Weak transcription	Fetal Brain Male	brain
2	chr8:90924800-90986600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:90925400-90979200	Weak transcription	Gastric	stomach
4	chr8:90927000-90978000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:90927600-90988400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:90927800-90996000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:90942600-90977400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:90942600-90982600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr8:90944400-90977000	Strong transcription	Dnd41	blood
10	chr8:90944400-90982800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:90944600-90982000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr8:90944800-90984400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:90961800-90977600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:90962000-90994400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:90962000-90995000	Weak transcription	Aorta	Aorta
16	chr8:90962400-90980200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr8:90962400-90982000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:90962600-90982400	Weak transcription	Stomach Mucosa	stomach
19	chr8:90962600-90983400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:90963000-90982000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:90963800-90976600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:90963800-90977000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:90964200-90976800	Strong transcription	Liver	Liver
24	chr8:90964600-90976800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:90964600-90977000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:90965000-90984200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:90968800-90976400	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:90968800-90976800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:90968800-90977200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:90968800-90977600	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr8:90968800-90978000	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr8:90969000-90976800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr8:90969000-90977200	Strong transcription	Adipose Nuclei	Adipose
34	chr8:90969000-90981800	Strong transcription	Primary B cells from cord blood	blood
35	chr8:90969200-90976400	Strong transcription	Primary T cells from cord blood	blood
36	chr8:90969200-90976800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:90969400-90976200	Strong transcription	Fetal Muscle Leg	muscle
38	chr8:90969400-90976400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:90969400-90976800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:90969400-90977000	Strong transcription	Primary hematopoietic stem cells	blood
41	chr8:90969400-90977000	Strong transcription	Fetal Muscle Trunk	muscle
42	chr8:90969400-90977200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:90969600-90976400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr8:90969600-90983400	Strong transcription	HSMM	muscle
45	chr8:90969800-90976400	Strong transcription	Left Ventricle	heart
46	chr8:90969800-90976800	Strong transcription	Fetal Lung	lung
47	chr8:90969800-90977000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr8:90969800-90977000	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr8:90970400-90976400	Strong transcription	HUVEC	blood vessel
50	chr8:90970600-90988200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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