Variant report

Variant	rs6994585
Chromosome Location	chr8:127838101-127838102
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:127836927..127839136-chr8:127848377..127851052,2	K562	blood:
2	chr8:127834592..127842945-chr8:128745185..128752445,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249375	Chromatin interaction
ENSG00000136997	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10216375	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13270320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13279644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901732	1.00[CEU][hapmap];0.94[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];1.00[ASN][1000 genomes]
rs16901733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59903817	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60087888	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6983330	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6983660	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6984346	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6984351	0.94[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];0.98[ASN][1000 genomes]
rs6989873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992587	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7003659	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7003931	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7003948	0.91[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891438	chr8:127670339-127845702	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv1819408	chr8:127835876-127898165	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv1851585	chr8:127836077-127838244	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1846092	chr8:127836077-127838825	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1848524	chr8:127836277-127838744	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:127833600-127839800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:127837200-127840000	Weak transcription	Fetal Thymus	thymus
3	chr8:127837400-127838400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:127837400-127838400	Enhancers	Brain Germinal Matrix	brain
5	chr8:127837400-127839200	Weak transcription	Placenta	Placenta
6	chr8:127837400-127839600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:127837400-127839800	Weak transcription	Fetal Stomach	stomach
8	chr8:127837400-127840000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:127837400-127840000	Weak transcription	Fetal Lung	lung
10	chr8:127837400-127840200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:127837400-127840400	Weak transcription	Left Ventricle	heart
12	chr8:127837400-127840600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:127837400-127841200	Enhancers	Fetal Heart	heart
14	chr8:127837400-127841400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:127837400-127841400	Enhancers	Fetal Muscle Leg	muscle
16	chr8:127837400-127842800	Enhancers	NHLF	lung
17	chr8:127837400-127843800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:127837600-127838200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:127837600-127838200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:127837600-127839600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:127837600-127839800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:127837600-127840000	Weak transcription	Fetal Intestine Small	intestine
23	chr8:127837600-127840400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:127837600-127840400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr8:127837600-127840400	Weak transcription	Right Atrium	heart
26	chr8:127837600-127841200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:127837600-127841400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:127837800-127838200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:127837800-127839200	Weak transcription	NH-A	brain
30	chr8:127837800-127839600	Weak transcription	HMEC	breast
31	chr8:127837800-127840000	Weak transcription	Fetal Kidney	kidney
32	chr8:127837800-127840400	Enhancers	HSMMtube	muscle
33	chr8:127837800-127845600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:127837800-127845800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:127837800-127845800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:127838000-127839000	Weak transcription	Psoas Muscle	Psoas
37	chr8:127838000-127839200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:127838000-127839200	Weak transcription	HSMM	muscle
39	chr8:127838000-127839200	Weak transcription	HUVEC	blood vessel
40	chr8:127838000-127839200	Weak transcription	NHEK	skin
41	chr8:127838000-127839400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:127838000-127839400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:127838000-127839400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:127838000-127839600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:127838000-127839600	Weak transcription	Osteobl	bone
46	chr8:127838000-127840200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:127838000-127840200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:127838000-127840200	Weak transcription	NHDF-Ad	bronchial
49	chr8:127838000-127840400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:127838000-127845400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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