Variant report

Variant	rs7010484
Chromosome Location	chr8:63937675-63937676
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:63935416..63938127-chr8:63942225..63943777,2	K562	blood:
2	chr8:63937516..63940331-chr8:63949992..63952545,2	K562	blood:
3	chr8:63925295..63930979-chr8:63933165..63939315,7	K562	blood:

Variant related genes	Relation type
ENSG00000137563	Chromatin interaction
ENSG00000240915	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10090886	0.80[EUR][1000 genomes]
rs10100456	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10106324	1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10808728	0.85[EUR][1000 genomes]
rs12115136	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12335094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550400	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12679222	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1455574	0.81[EUR][1000 genomes]
rs2043525	1.00[CHB][hapmap]
rs2353388	0.83[EUR][1000 genomes]
rs2736676	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4279586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4352845	0.83[EUR][1000 genomes]
rs4377959	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4397399	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4400383	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4413770	0.83[EUR][1000 genomes]
rs4446729	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4449783	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4546654	0.82[AMR][1000 genomes]
rs4573267	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4592024	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4739049	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5007413	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6472066	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6998134	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6998383	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6999604	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7000012	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7003413	1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7016339	1.00[CHB][hapmap]
rs7387326	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7388305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs7818905	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7823275	0.83[AMR][1000 genomes]
rs7839216	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839874	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63922400-63941800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:63922600-63949200	Weak transcription	Fetal Brain Female	brain
3	chr8:63922800-63938000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:63922800-63938000	Weak transcription	Esophagus	oesophagus
5	chr8:63922800-63939200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:63922800-63941000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:63922800-63950000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:63922800-63950000	Weak transcription	HMEC	breast
9	chr8:63922800-63950800	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:63923400-63940800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:63923600-63941800	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:63923600-63944600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr8:63923800-63950600	Weak transcription	Fetal Kidney	kidney
14	chr8:63924000-63944800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:63924200-63941200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:63924200-63941800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:63924800-63941000	Weak transcription	Fetal Intestine Small	intestine
18	chr8:63926200-63945200	Weak transcription	A549	lung
19	chr8:63926200-63949000	Weak transcription	Brain Germinal Matrix	brain
20	chr8:63926200-63949400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:63927000-63939800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:63929200-63949200	Weak transcription	Fetal Brain Male	brain
23	chr8:63929400-63945400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:63931400-63950000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:63932200-63942800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:63932600-63940200	Weak transcription	Primary B cells from cord blood	blood
27	chr8:63935400-63939600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:63935400-63949200	Weak transcription	K562	blood
29	chr8:63935800-63950000	Weak transcription	NHDF-Ad	bronchial
30	chr8:63936200-63938200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr8:63936200-63941000	Weak transcription	Fetal Intestine Large	intestine
32	chr8:63936200-63949600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:63936400-63948800	Weak transcription	GM12878-XiMat	blood
34	chr8:63936400-63949400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:63936600-63938000	Strong transcription	Primary hematopoietic stem cells	blood
36	chr8:63936600-63938400	Enhancers	HSMMtube	muscle
37	chr8:63936600-63938600	Enhancers	HSMM	muscle
38	chr8:63936800-63938200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr8:63936800-63938600	Enhancers	NH-A	brain
40	chr8:63936800-63949800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:63936800-63949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:63937000-63938000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr8:63937000-63938600	Enhancers	HUVEC	blood vessel
44	chr8:63937000-63938800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr8:63937000-63939200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr8:63937000-63940600	Weak transcription	HepG2	liver
47	chr8:63937200-63937800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:63937200-63937800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:63937200-63938000	Enhancers	H9 Cell Line	embryonic stem cell
50	chr8:63937200-63938000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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