Variant report

Variant	rs6535727
Chromosome Location	chr4:151201076-151201077
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	chr4:151199693..151202528-chr4:151202703..151205014,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10520053	0.80[EUR][1000 genomes]
rs11059	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13134607	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1813250	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2085723	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2085724	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6817154	0.81[EUR][1000 genomes]
rs7657086	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7661359	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7691260	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs999784	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription 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	5 gene(s)	inside rSNPs	diseases
4	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv880257	chr4:151170387-151231371	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6535727	LRBA	cis	uninvolved skin	skin_eQTL
rs6535727	LRBA	cis	normal skin	skin_eQTL
rs6535727	ATP2B1	trans	parietal	SCAN
rs6535727	DCLK2	cis	cerebellum	SCAN
rs6535727	LRBA	cis	lesional skin	skin_eQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151172800-151201600	Weak transcription	GM12878-XiMat	blood
2	chr4:151173400-151201400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:151176400-151202800	Weak transcription	Psoas Muscle	Psoas
4	chr4:151178200-151204200	Weak transcription	Colonic Mucosa	Colon
5	chr4:151178400-151201400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:151178400-151201600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:151178400-151208600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:151180400-151201200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:151181400-151201800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:151181600-151202000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:151181600-151202000	Weak transcription	Fetal Kidney	kidney
12	chr4:151181600-151203400	Weak transcription	Right Ventricle	heart
13	chr4:151181800-151201600	Weak transcription	Brain Angular Gyrus	brain
14	chr4:151181800-151209000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:151182000-151201200	Weak transcription	Fetal Heart	heart
16	chr4:151182600-151208000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:151184800-151209200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:151185000-151202000	Weak transcription	K562	blood
19	chr4:151186200-151208000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:151186400-151204800	Weak transcription	Placenta	Placenta
21	chr4:151187600-151202000	Weak transcription	Left Ventricle	heart
22	chr4:151187600-151206000	Weak transcription	Dnd41	blood
23	chr4:151187800-151201400	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:151187800-151202400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:151188000-151201400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr4:151188600-151201400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr4:151190200-151204600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr4:151190600-151201400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:151191000-151201400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr4:151191400-151245200	Weak transcription	Small Intestine	intestine
31	chr4:151192000-151201400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:151192400-151232800	Weak transcription	Brain Substantia Nigra	brain
33	chr4:151193400-151208400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:151193600-151203000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr4:151193600-151210200	Weak transcription	HepG2	liver
36	chr4:151195200-151201200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:151195200-151205000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr4:151196600-151201400	Weak transcription	NHEK	skin
39	chr4:151197200-151209400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr4:151197800-151206800	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr4:151198200-151208600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:151198400-151204400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:151198400-151204600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:151198400-151204600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr4:151198400-151205000	Strong transcription	Primary B cells from cord blood	blood
46	chr4:151198400-151209000	Strong transcription	Primary T cells from cord blood	blood
47	chr4:151198600-151204600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr4:151198600-151205200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr4:151198600-151207200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr4:151198800-151201400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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