Variant report

Variant	rs6990504
Chromosome Location	chr8:8205816-8205817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11785239	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2176631	0.81[CEU][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2921005	0.87[ASN][1000 genomes]
rs2921007	0.89[ASN][1000 genomes]
rs2945266	0.83[ASN][1000 genomes]
rs2945842	0.92[ASN][1000 genomes]
rs2945853	0.89[ASN][1000 genomes]
rs2945863	0.83[ASN][1000 genomes]
rs2945914	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2945916	0.83[ASN][1000 genomes]
rs2948283	0.83[ASN][1000 genomes]
rs2948284	0.83[ASN][1000 genomes]
rs2955552	0.83[ASN][1000 genomes]
rs2976955	0.92[ASN][1000 genomes]
rs2976971	0.89[ASN][1000 genomes]
rs2980497	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4592038	0.89[ASN][1000 genomes]
rs4840932	1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4840941	0.89[ASN][1000 genomes]
rs712259	0.83[ASN][1000 genomes]
rs724265	0.92[ASN][1000 genomes]
rs7833103	0.87[ASN][1000 genomes]
rs793507	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915915	chr8:7239471-8222024	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	76 gene(s)	inside rSNPs	diseases
2	nsv533299	chr8:7268825-8222024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	75 gene(s)	inside rSNPs	diseases
3	nsv869874	chr8:7753583-8229906	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv817196	chr8:8079861-8255544	Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv465448	chr8:8098079-8403142	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv610152	chr8:8098079-8403142	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv610153	chr8:8098079-8454531	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv610154	chr8:8101641-8328101	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1032259	chr8:8108863-8247113	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv1020290	chr8:8108863-8260280	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv539440	chr8:8108863-8260280	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv1029268	chr8:8130629-8403435	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv539446	chr8:8130629-8403435	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
17	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
18	nsv610156	chr8:8163243-8207339	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv831227	chr8:8204838-8367160	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6990504	BLK	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8182800-8215800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:8185800-8219600	Weak transcription	Ovary	ovary
3	chr8:8186400-8215800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:8194000-8207400	Weak transcription	Stomach Mucosa	stomach
5	chr8:8197200-8209800	Weak transcription	Lung	lung
6	chr8:8197200-8211200	Weak transcription	Esophagus	oesophagus
7	chr8:8197200-8214000	Weak transcription	Gastric	stomach
8	chr8:8197200-8215800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:8197400-8210400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:8197800-8212800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:8198000-8211000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:8198600-8206200	Weak transcription	HMEC	breast
13	chr8:8200800-8207600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:8202200-8206400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:8202200-8206600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:8202400-8215400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:8202600-8207200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:8202800-8206600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:8203200-8209000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:8203400-8206200	Enhancers	Fetal Brain Female	brain
21	chr8:8203400-8206600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:8203400-8206600	Enhancers	HSMMtube	muscle
23	chr8:8203400-8206600	Enhancers	Osteobl	bone
24	chr8:8203400-8208400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:8203600-8206200	Strong transcription	NHEK	skin
26	chr8:8203600-8206600	Genic enhancers	NH-A	brain
27	chr8:8204000-8206600	Enhancers	Fetal Brain Male	brain
28	chr8:8204200-8212000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:8204400-8206000	Weak transcription	Fetal Intestine Large	intestine
30	chr8:8204400-8206600	Enhancers	HSMM	muscle
31	chr8:8204400-8206600	Enhancers	NHLF	lung
32	chr8:8204400-8207800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:8204400-8212800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr8:8204400-8215000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:8204600-8206000	Strong transcription	HepG2	liver
36	chr8:8204600-8206400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:8204600-8207200	Enhancers	Psoas Muscle	Psoas
38	chr8:8204600-8207400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:8204800-8206200	Enhancers	Fetal Muscle Leg	muscle
40	chr8:8204800-8206200	Enhancers	Fetal Thymus	thymus
41	chr8:8204800-8206400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:8204800-8206400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr8:8204800-8206400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr8:8204800-8206600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr8:8204800-8206800	Enhancers	NHDF-Ad	bronchial
46	chr8:8204800-8207600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:8204800-8207600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:8204800-8207800	Weak transcription	Right Atrium	heart
49	chr8:8204800-8209400	Weak transcription	Brain Angular Gyrus	brain
50	chr8:8204800-8210200	Enhancers	Primary B cells from peripheral blood	blood

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