Variant report

Variant	rs7838412
Chromosome Location	chr8:19437974-19437975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19436000..19438471-chr8:19438486..19440829,2	K562	blood:
2	chr21:30444672..30446853-chr8:19437121..19438621,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156261	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1013438	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10888166	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11204046	1.00[CEU][hapmap]
rs11204047	0.80[CEU][hapmap]
rs11778734	0.83[CEU][hapmap]
rs17479777	0.81[CEU][hapmap]
rs2958576	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4244454	0.93[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4311666	0.83[CEU][hapmap]
rs4319111	0.85[CEU][hapmap]
rs4410924	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4433157	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4483172	0.87[CEU][hapmap]
rs4618713	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4633073	0.86[EUR][1000 genomes]
rs4921647	0.82[CEU][hapmap]
rs4922041	0.88[CEU][hapmap]
rs4922044	0.81[CEU][hapmap]
rs4922045	0.88[CEU][hapmap]
rs4922046	0.87[CEU][hapmap]
rs4922047	0.87[CEU][hapmap]
rs4922049	0.80[CEU][hapmap]
rs4922065	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6586843	1.00[CEU][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6586844	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6586846	1.00[ASN][1000 genomes]
rs6586849	0.89[EUR][1000 genomes]
rs6998334	0.87[CEU][hapmap]
rs6999542	0.80[CEU][hapmap]
rs7016845	0.88[EUR][1000 genomes]
rs7017776	0.87[CEU][hapmap]
rs7831489	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7839041	0.82[CEU][hapmap]
rs7841402	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription 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 miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv890624	chr8:19319061-19456270	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv610753	chr8:19364883-19439977	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv890626	chr8:19383697-19483259	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv610754	chr8:19419494-19525294	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv465601	chr8:19434021-19456473	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv610755	chr8:19434021-19456473	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv610756	chr8:19434021-19471977	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19422600-19442000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr8:19430800-19438400	Weak transcription	Brain Anterior Caudate	brain
3	chr8:19434000-19457800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:19434400-19442400	Weak transcription	Primary B cells from cord blood	blood
5	chr8:19434600-19450800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr8:19434600-19451400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:19435000-19457200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr8:19435200-19438000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:19435400-19438000	Enhancers	Ovary	ovary
10	chr8:19435400-19442600	Weak transcription	Primary T cells from cord blood	blood
11	chr8:19435600-19438800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:19436000-19438000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:19436000-19438000	Enhancers	Fetal Brain Male	brain
14	chr8:19436000-19438000	Enhancers	Stomach Mucosa	stomach
15	chr8:19436000-19438800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:19436200-19438200	Enhancers	Rectal Smooth Muscle	rectum
17	chr8:19436200-19438800	Enhancers	Colon Smooth Muscle	Colon
18	chr8:19436400-19438000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:19436400-19442400	Weak transcription	Pancreas	Pancrea
20	chr8:19436600-19438200	Enhancers	Fetal Lung	lung
21	chr8:19436600-19440200	Weak transcription	Brain Angular Gyrus	brain
22	chr8:19436800-19438200	Enhancers	NHLF	lung
23	chr8:19436800-19438800	Enhancers	Osteobl	bone
24	chr8:19436800-19439600	Enhancers	Hela-S3	cervix
25	chr8:19437000-19438600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:19437000-19439000	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr8:19437000-19445200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:19437400-19438000	Enhancers	Aorta	Aorta
29	chr8:19437600-19438000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr8:19437600-19438600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:19437600-19438800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr8:19437600-19439000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr8:19437800-19438000	Enhancers	Brain Substantia Nigra	brain
34	chr8:19437800-19438000	Flanking Active TSS	A549	lung
35	chr8:19437800-19438200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:19437800-19438400	Weak transcription	Adipose Nuclei	Adipose
37	chr8:19437800-19439200	Weak transcription	Brain Hippocampus Middle	brain
38	chr8:19437800-19441200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:19437800-19441400	Weak transcription	Gastric	stomach
40	chr8:19437800-19441400	Weak transcription	NHDF-Ad	bronchial
41	chr8:19437800-19441600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr8:19437800-19441600	Weak transcription	HepG2	liver
43	chr8:19437800-19441800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:19437800-19442400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:19437800-19442600	Weak transcription	Placenta	Placenta
46	chr8:19437800-19442800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr8:19437800-19444800	Weak transcription	Left Ventricle	heart
48	chr8:19437800-19445200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr8:19437800-19456200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr8:19437800-19459600	Weak transcription	Right Ventricle	heart

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