Variant report

Variant	rs6993972
Chromosome Location	chr8:127837859-127837860
allele	A/C
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: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10106550	0.85[AMR][1000 genomes]
rs10216500	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10216660	0.92[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];0.97[ASN][1000 genomes]
rs10216757	0.92[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];0.97[ASN][1000 genomes]
rs10216925	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10216939	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10505487	0.85[AMR][1000 genomes]
rs10505488	0.85[AMR][1000 genomes]
rs10505489	0.85[AMR][1000 genomes]
rs11987858	0.81[AMR][1000 genomes]
rs11989801	0.81[AMR][1000 genomes]
rs12547157	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16901734	1.00[CEU][hapmap];0.92[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];0.99[ASN][1000 genomes]
rs16901776	0.85[AMR][1000 genomes]
rs16901778	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16901783	0.85[AMR][1000 genomes]
rs16901785	0.85[AMR][1000 genomes]
rs1873184	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1873185	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28409662	0.85[AMR][1000 genomes]
rs28617317	0.85[AMR][1000 genomes]
rs6983290	0.92[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];0.97[ASN][1000 genomes]
rs6984670	0.81[AMR][1000 genomes]
rs6998093	0.85[AMR][1000 genomes]
rs7005373	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7012160	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7016582	1.00[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];0.97[ASN][1000 genomes]
rs7016606	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72722244	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72722245	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7813029	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7816751	0.81[AMR][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:52 , 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	chr8:127837200-127838000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:127837200-127840000	Weak transcription	Fetal Thymus	thymus
4	chr8:127837400-127838000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:127837400-127838000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:127837400-127838000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:127837400-127838000	Enhancers	HSMM	muscle
8	chr8:127837400-127838000	Enhancers	NHEK	skin
9	chr8:127837400-127838400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:127837400-127838400	Enhancers	Brain Germinal Matrix	brain
11	chr8:127837400-127839200	Weak transcription	Placenta	Placenta
12	chr8:127837400-127839600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:127837400-127839800	Weak transcription	Fetal Stomach	stomach
14	chr8:127837400-127840000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:127837400-127840000	Weak transcription	Fetal Lung	lung
16	chr8:127837400-127840200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:127837400-127840400	Weak transcription	Left Ventricle	heart
18	chr8:127837400-127840600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr8:127837400-127841200	Enhancers	Fetal Heart	heart
20	chr8:127837400-127841400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:127837400-127841400	Enhancers	Fetal Muscle Leg	muscle
22	chr8:127837400-127842800	Enhancers	NHLF	lung
23	chr8:127837400-127843800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:127837600-127838000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr8:127837600-127838000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:127837600-127838000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:127837600-127838000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr8:127837600-127838000	Enhancers	HUVEC	blood vessel
29	chr8:127837600-127838000	Enhancers	NHDF-Ad	bronchial
30	chr8:127837600-127838000	Enhancers	Osteobl	bone
31	chr8:127837600-127838200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:127837600-127838200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:127837600-127839600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:127837600-127839800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:127837600-127840000	Weak transcription	Fetal Intestine Small	intestine
36	chr8:127837600-127840400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:127837600-127840400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr8:127837600-127840400	Weak transcription	Right Atrium	heart
39	chr8:127837600-127841200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:127837600-127841400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:127837800-127838000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:127837800-127838000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:127837800-127838000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:127837800-127838000	Enhancers	Psoas Muscle	Psoas
45	chr8:127837800-127838200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:127837800-127839200	Weak transcription	NH-A	brain
47	chr8:127837800-127839600	Weak transcription	HMEC	breast
48	chr8:127837800-127840000	Weak transcription	Fetal Kidney	kidney
49	chr8:127837800-127840400	Enhancers	HSMMtube	muscle
50	chr8:127837800-127845600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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