Variant report

Variant	rs7824517
Chromosome Location	chr8:96226251-96226252
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:96223779..96226497-chr8:96236467..96238844,2	K562	blood:
2	chr8:96220160..96222982-chr8:96225240..96226907,2	K562	blood:
3	chr8:96224814..96227323-chr8:96239460..96241166,3	MCF-7	breast:
4	chr8:96148386..96151549-chr8:96224432..96227854,3	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12155945	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs56001003	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62522644	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62522646	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62522648	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817880	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7824368	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836889	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription 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 miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv523655	chr8:96205920-96239113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv16466	chr8:96206151-96243934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv516035	chr8:96208726-96235451	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv465740	chr8:96211820-96235451	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv611758	chr8:96211820-96235451	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv6315	chr8:96216465-96261671	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv465741	chr8:96221122-96247835	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv611759	chr8:96221122-96247835	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7824517	SLC26A7	cis	parietal	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96214200-96226400	Weak transcription	Right Atrium	heart
2	chr8:96214400-96233400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:96218800-96227000	Enhancers	Pancreas	Pancrea
4	chr8:96219400-96229600	Enhancers	Fetal Thymus	thymus
5	chr8:96219800-96251800	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:96220000-96227200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:96220600-96229400	Enhancers	Primary hematopoietic stem cells	blood
8	chr8:96220800-96226400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:96220800-96228000	Enhancers	Thymus	Thymus
10	chr8:96220800-96229600	Enhancers	Primary B cells from cord blood	blood
11	chr8:96221000-96228400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr8:96221200-96228800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr8:96222000-96228400	Enhancers	Primary T cells from cord blood	blood
14	chr8:96222400-96227800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr8:96222600-96227600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr8:96222800-96227400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr8:96222800-96227400	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr8:96223000-96226400	Weak transcription	Psoas Muscle	Psoas
19	chr8:96223000-96227600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr8:96223200-96226400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:96223200-96228600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:96223400-96227200	Enhancers	HMEC	breast
23	chr8:96223600-96226400	Weak transcription	Left Ventricle	heart
24	chr8:96223600-96228000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr8:96223600-96237200	Weak transcription	Fetal Intestine Small	intestine
26	chr8:96223800-96228800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr8:96223800-96229200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr8:96224000-96227200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:96224000-96228800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:96224200-96230000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr8:96224400-96226400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:96224600-96228400	Enhancers	Spleen	Spleen
33	chr8:96224800-96226800	Weak transcription	Liver	Liver
34	chr8:96225200-96227600	Enhancers	Lung	lung
35	chr8:96225200-96227600	Enhancers	GM12878-XiMat	blood
36	chr8:96225200-96227800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr8:96225200-96229800	Weak transcription	Stomach Mucosa	stomach
38	chr8:96225400-96226400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:96225400-96226400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:96225400-96226800	Enhancers	HSMMtube	muscle
41	chr8:96225400-96227200	Enhancers	HSMM	muscle
42	chr8:96225400-96228800	Weak transcription	HepG2	liver
43	chr8:96225400-96232800	Weak transcription	Esophagus	oesophagus
44	chr8:96225600-96226400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:96225600-96226600	Weak transcription	K562	blood
46	chr8:96225600-96228000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr8:96225600-96236200	Weak transcription	Gastric	stomach
48	chr8:96226000-96226800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:96226000-96226800	Enhancers	NHEK	skin
50	chr8:96226000-96227000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

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