Variant report

Variant	rs67381177
Chromosome Location	chr6:28411941-28411942
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:28411913-28412722	K562	blood:	n/a	n/a

Variant related genes	Relation type
ZSCAN23	TF binding region
COX11P1	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs13190888	0.88[EUR][1000 genomes]
rs13191038	0.93[EUR][1000 genomes]
rs13191786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13195291	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs13197633	0.93[EUR][1000 genomes]
rs13198809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13201681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13204012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13205211	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13207345	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13208096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13211507	0.93[EUR][1000 genomes]
rs13213152	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13213986	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13214023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13217619	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2232423	0.96[EUR][1000 genomes]
rs2232426	0.96[EUR][1000 genomes]
rs2232429	0.96[EUR][1000 genomes]
rs33932084	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34218844	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34243448	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34396849	0.93[EUR][1000 genomes]
rs34546986	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34661125	0.93[EUR][1000 genomes]
rs34676049	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34691223	0.93[EUR][1000 genomes]
rs34871267	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34878803	0.93[EUR][1000 genomes]
rs34950484	0.93[EUR][1000 genomes]
rs35001169	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35016036	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35017208	1.00[EUR][1000 genomes]
rs35030260	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35072899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35353359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35656932	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35744819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35883476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36092177	0.96[EUR][1000 genomes]
rs4947336	0.87[EUR][1000 genomes]
rs55690788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56075693	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56189111	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67340775	0.94[EUR][1000 genomes]
rs67981811	0.96[EUR][1000 genomes]
rs67998226	0.93[EUR][1000 genomes]
rs72854513	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67381177	AL022393.7	cis	Muscle Skeletal	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28410200-28412000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:28410200-28412000	Active TSS	Stomach Smooth Muscle	stomach
3	chr6:28410200-28412000	Flanking Active TSS	Dnd41	blood
4	chr6:28410400-28412000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr6:28410400-28412000	Active TSS	Psoas Muscle	Psoas
6	chr6:28410400-28412400	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr6:28410800-28412000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:28410800-28412000	Active TSS	Brain Hippocampus Middle	brain
9	chr6:28410800-28412000	Active TSS	Rectal Smooth Muscle	rectum
10	chr6:28411000-28412000	ZNF genes & repeats	Spleen	Spleen
11	chr6:28411000-28412000	Active TSS	HMEC	breast
12	chr6:28411600-28412000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:28411600-28412000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr6:28411600-28412000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr6:28411600-28412000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:28411600-28412000	Enhancers	Duodenum Mucosa	Duodenum
17	chr6:28411600-28412200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
18	chr6:28411600-28412400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
19	chr6:28411600-28412400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:28411600-28412400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr6:28411600-28412400	Enhancers	Fetal Thymus	thymus
22	chr6:28411600-28412600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr6:28411600-28414400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr6:28411600-28414400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:28411600-28414400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:28411600-28414600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:28411600-28414600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:28411600-28414600	Weak transcription	NHLF	lung
29	chr6:28411600-28414800	Weak transcription	Aorta	Aorta
30	chr6:28411600-28414800	Weak transcription	Pancreas	Pancrea
31	chr6:28411800-28412000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:28411800-28412000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:28411800-28412000	Active TSS	Colon Smooth Muscle	Colon
34	chr6:28411800-28412000	ZNF genes & repeats	GM12878-XiMat	blood
35	chr6:28411800-28412200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:28411800-28412400	Active TSS	Primary T cells from cord blood	blood
37	chr6:28411800-28412400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr6:28411800-28412800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr6:28411800-28414000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:28411800-28414200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:28411800-28414400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr6:28411800-28414400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr6:28411800-28414400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr6:28411800-28414400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr6:28411800-28414400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr6:28411800-28414400	Weak transcription	NH-A	brain
47	chr6:28411800-28414400	Weak transcription	Osteobl	bone
48	chr6:28411800-28414600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:28411800-28414600	Weak transcription	Right Ventricle	heart
50	chr6:28411800-28414600	Weak transcription	HSMM	muscle

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