Variant report

Variant	rs6668736
Chromosome Location	chr1:75234550-75234551
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:75234170..75236486-chr1:75241343..75243331,2	K562	blood:
2	chr1:75228741..75231063-chr1:75233149..75235215,2	K562	blood:
3	chr1:75226788..75230241-chr1:75231524..75234649,3	K562	blood:

Variant related genes	Relation type
ENSG00000162623	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10161	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12125889	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129513	0.81[CEU][hapmap];0.87[AMR][1000 genomes]
rs1574941	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1590639	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17618340	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2345438	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28535522	0.88[AMR][1000 genomes]
rs28594379	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28640981	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28804435	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35497701	0.90[AMR][1000 genomes]
rs3889133	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55895041	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1851105	chr1:75152186-75302921	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs6668736	CRYZ	cis	lesional skin	skin_eQTL
rs6668736	CRYZ	cis	Adipose Subcutaneous	GTEx
rs6668736	CRYZ	cis	Skin Sun Exposed Lower leg	GTEx
rs6668736	CRYZ	Cis_1M	lymphoblastoid	RTeQTL
rs6668736	TYW3	cis	Muscle Skeletal	GTEx
rs6668736	CRYZ	cis	multi-tissue	Pritchard
rs6668736	CRYZ	cis	Nerve Tibial	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75216000-75235200	Weak transcription	Right Ventricle	heart
2	chr1:75221400-75238000	Weak transcription	A549	lung
3	chr1:75221600-75234600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:75221600-75237600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:75222200-75236000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:75223000-75235200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:75223600-75235200	Weak transcription	Spleen	Spleen
8	chr1:75225000-75235000	Weak transcription	Fetal Kidney	kidney
9	chr1:75226000-75237600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:75227800-75235600	Weak transcription	HUVEC	blood vessel
11	chr1:75228000-75235200	Weak transcription	Left Ventricle	heart
12	chr1:75228000-75235800	Weak transcription	Aorta	Aorta
13	chr1:75228400-75235000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:75228800-75234600	Weak transcription	HMEC	breast
15	chr1:75230200-75234800	Weak transcription	GM12878-XiMat	blood
16	chr1:75230800-75238400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:75231000-75234600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:75231200-75234600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:75231200-75234600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:75231200-75235200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:75231200-75235600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:75231200-75235800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:75231200-75237600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:75231200-75237600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:75231200-75237800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:75231200-75245600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:75231200-75246000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:75231400-75234600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:75231400-75234800	Weak transcription	HSMMtube	muscle
30	chr1:75231600-75236200	Weak transcription	Primary B cells from cord blood	blood
31	chr1:75231800-75235000	Weak transcription	Dnd41	blood
32	chr1:75231800-75235800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:75231800-75237000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:75231800-75237400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:75232000-75234600	Weak transcription	HSMM	muscle
36	chr1:75232200-75238000	Weak transcription	Liver	Liver
37	chr1:75232600-75235000	Weak transcription	Primary T cells from cord blood	blood

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