Variant report

Variant	rs6971813
Chromosome Location	chr7:27882794-27882795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27877749..27879466-chr7:27881187..27883816,2	K562	blood:
2	chr7:27877025..27879466-chr7:27881187..27883994,3	K562	blood:
3	chr7:27701860..27704389-chr7:27881950..27883537,2	K562	blood:

Variant related genes	Relation type
ENSG00000106049	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10155851	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10225487	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10267854	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10277437	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10486559	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10951184	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16874364	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16874393	0.80[EUR][1000 genomes]
rs17150570	0.80[EUR][1000 genomes]
rs17155702	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17155943	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17155950	0.83[EUR][1000 genomes]
rs2051830	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2074579	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2074769	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2107413	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2108309	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2158388	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2237339	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2237340	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2237341	0.90[EUR][1000 genomes]
rs2285931	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2299106	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2391488	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3779473	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3940270	0.82[AMR][1000 genomes]
rs4719907	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4719908	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4722741	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57932688	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58314651	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62449629	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62449639	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62449640	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62451077	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62451079	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62454806	0.84[EUR][1000 genomes]
rs62454945	0.82[EUR][1000 genomes]
rs6462048	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6462049	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6462052	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6462053	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6944251	0.89[EUR][1000 genomes]
rs6944913	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6972821	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72598505	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7784038	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7801301	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7803019	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7803227	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7809735	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv5677	chr7:27839504-27884505	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1018550	chr7:27844038-27925645	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6971813	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27847600-27885200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr7:27866000-27884600	Strong transcription	Primary B cells from cord blood	blood
3	chr7:27869600-27882800	Strong transcription	Primary B cells from peripheral blood	blood
4	chr7:27870600-27891800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:27871400-27889600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:27872800-27886000	Weak transcription	HMEC	breast
7	chr7:27872800-27890000	Weak transcription	Fetal Lung	lung
8	chr7:27873800-27886200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:27874000-27883200	Strong transcription	Fetal Stomach	stomach
10	chr7:27874400-27888600	Weak transcription	Brain Angular Gyrus	brain
11	chr7:27875200-27913000	Weak transcription	Right Atrium	heart
12	chr7:27876200-27913000	Weak transcription	Fetal Heart	heart
13	chr7:27876400-27886200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:27878800-27884800	Weak transcription	Thymus	Thymus
15	chr7:27879000-27884800	Weak transcription	Fetal Intestine Large	intestine
16	chr7:27880000-27891600	Weak transcription	Osteobl	bone
17	chr7:27880400-27884400	Enhancers	Fetal Brain Female	brain
18	chr7:27880400-27891000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:27880600-27882800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:27880600-27883000	Weak transcription	Fetal Thymus	thymus
21	chr7:27880600-27883600	Weak transcription	Left Ventricle	heart
22	chr7:27880600-27889000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:27880600-27903000	Weak transcription	Lung	lung
24	chr7:27880600-27913600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:27880800-27882800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:27880800-27882800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:27880800-27883600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:27880800-27884200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:27880800-27895600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr7:27880800-27896600	Weak transcription	Spleen	Spleen
31	chr7:27880800-27896800	Weak transcription	Gastric	stomach
32	chr7:27880800-27913200	Weak transcription	Aorta	Aorta
33	chr7:27881000-27883000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:27881000-27883400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:27881000-27905600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr7:27881200-27883200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:27881200-27883800	Enhancers	Fetal Brain Male	brain
38	chr7:27881200-27895800	Weak transcription	Primary T cells from cord blood	blood
39	chr7:27881400-27882800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr7:27881400-27882800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr7:27881400-27883400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:27881400-27883400	Enhancers	Colon Smooth Muscle	Colon
43	chr7:27881600-27882800	Enhancers	Brain Cingulate Gyrus	brain
44	chr7:27881600-27883400	Enhancers	Placenta	Placenta
45	chr7:27881600-27883600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:27881600-27884600	Enhancers	Fetal Muscle Leg	muscle
47	chr7:27881600-27895600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:27881800-27882800	Enhancers	Rectal Smooth Muscle	rectum
49	chr7:27881800-27883200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:27881800-27883600	Enhancers	HUES64 Cell Line	embryonic stem cell

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