Variant report

Variant	rs4840941
Chromosome Location	chr8:8216986-8216987
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	chr8:8215387..8217821-chr8:8218761..8221155,2	K562	blood:
2	chr8:8206715..8208610-chr8:8215544..8217436,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11785239	0.86[CHB][hapmap];0.89[ASN][1000 genomes]
rs1548198	1.00[CHB][hapmap]
rs2030279	0.88[CHB][hapmap]
rs2921005	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2921007	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2921055	0.86[CHB][hapmap]
rs2921060	0.86[CHB][hapmap]
rs2921064	0.88[CHB][hapmap]
rs2945266	0.86[CHB][hapmap]
rs2945842	0.87[ASN][1000 genomes]
rs2945853	0.85[ASN][1000 genomes]
rs2945914	0.80[ASN][1000 genomes]
rs2945916	0.86[CHB][hapmap]
rs2948283	0.86[CHB][hapmap]
rs2955552	0.86[CHB][hapmap]
rs2976876	0.86[CHB][hapmap]
rs2976955	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs2976971	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2979133	0.86[CHB][hapmap]
rs2979179	0.86[CHB][hapmap]
rs2979181	0.85[CHB][hapmap]
rs2980508	0.88[CHB][hapmap]
rs4592038	0.85[ASN][1000 genomes]
rs4840338	0.82[EUR][1000 genomes]
rs4840932	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6990504	0.89[ASN][1000 genomes]
rs7005904	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs712259	0.86[CHB][hapmap]
rs724265	0.92[ASN][1000 genomes]
rs7833103	1.00[CHB][hapmap];0.82[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	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
19	nsv610157	chr8:8207339-8232143	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4840941	FLJ10661	Cis_1M	lymphoblastoid	RTeQTL
rs4840941	BLK	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8185800-8219600	Weak transcription	Ovary	ovary
2	chr8:8205200-8218800	Weak transcription	Colonic Mucosa	Colon
3	chr8:8210600-8224800	ZNF genes & repeats	GM12878-XiMat	blood
4	chr8:8211200-8222000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:8211600-8220600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
6	chr8:8211600-8227400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:8211800-8221200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
8	chr8:8212000-8217400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:8212000-8218200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr8:8212000-8218200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr8:8212000-8221000	ZNF genes & repeats	A549	lung
12	chr8:8212000-8221800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr8:8212000-8222600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr8:8212000-8222600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr8:8212000-8223000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr8:8212200-8219000	ZNF genes & repeats	HepG2	liver
17	chr8:8212200-8222600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr8:8212400-8221200	ZNF genes & repeats	Primary B cells from cord blood	blood
19	chr8:8212800-8222200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:8212800-8222400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr8:8213000-8220400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:8213200-8221800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:8213200-8222400	ZNF genes & repeats	NHEK	skin
24	chr8:8213400-8217200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
25	chr8:8213400-8217600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:8213400-8220600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:8213400-8222800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr8:8213600-8220400	ZNF genes & repeats	HMEC	breast
29	chr8:8213600-8221200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
30	chr8:8213800-8219400	Weak transcription	Fetal Brain Male	brain
31	chr8:8214200-8221000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:8214400-8220400	ZNF genes & repeats	Primary T cells from cord blood	blood
33	chr8:8214600-8221000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
34	chr8:8215000-8217200	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr8:8215000-8218000	ZNF genes & repeats	Osteobl	bone
36	chr8:8215400-8217200	ZNF genes & repeats	NH-A	brain
37	chr8:8215400-8217600	ZNF genes & repeats	HSMM	muscle
38	chr8:8215400-8217800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:8215400-8220600	ZNF genes & repeats	Fetal Brain Female	brain
40	chr8:8215400-8221200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr8:8215400-8222400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
42	chr8:8215600-8217200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
43	chr8:8215600-8221600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:8215800-8217200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
45	chr8:8215800-8217200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:8216000-8219600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:8216200-8219400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr8:8216200-8219600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:8216200-8219600	Weak transcription	Gastric	stomach
50	chr8:8216400-8217400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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