Variant report

Variant	rs1573133
Chromosome Location	chr6:37504205-37504206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37497734..37501605-chr6:37502729..37507040,5	K562	blood:
2	chr6:37479736..37486031-chr6:37501228..37507298,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FTSJD2-1	chr6:37503308-37509148	XLOC_005278
2	lnc-FTSJD2-1	chr6:37503308-37506306	ENSG00000204110.5

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2776885	0.90[EUR][1000 genomes]
rs2797777	0.95[CEU][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs2797781	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2797786	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1016310	chr6:37473075-37528469	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv462914	chr6:37502585-37517485	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv602954	chr6:37502585-37517485	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1573133	DEF6	cis	cerebellum	SCAN
rs1573133	FTSJD2	cis	parietal	SCAN

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37493800-37514000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:37502000-37504400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:37502800-37505800	Bivalent Enhancer	Fetal Lung	lung
4	chr6:37503200-37504400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
5	chr6:37503200-37504400	Enhancers	Liver	Liver
6	chr6:37503200-37504400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
7	chr6:37503200-37504600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr6:37503200-37504600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:37503200-37504600	Bivalent Enhancer	Placenta	Placenta
10	chr6:37503200-37505000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr6:37503200-37505000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:37503400-37504400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:37503400-37504400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr6:37503400-37504400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
15	chr6:37503400-37504400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:37503400-37504400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:37503400-37504400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
18	chr6:37503400-37504400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
19	chr6:37503400-37504600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr6:37503400-37504600	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr6:37503400-37504600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:37503400-37504600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
23	chr6:37503400-37504600	Enhancers	Pancreas	Pancrea
24	chr6:37503400-37504600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
25	chr6:37503400-37504600	Flanking Active TSS	Right Ventricle	heart
26	chr6:37503400-37504800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr6:37503400-37504800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:37503400-37504800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:37503400-37504800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
30	chr6:37503400-37505000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr6:37503400-37505000	Bivalent Enhancer	Fetal Heart	heart
32	chr6:37503600-37504400	Active TSS	Brain Angular Gyrus	brain
33	chr6:37503600-37504400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
34	chr6:37503600-37504400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
35	chr6:37503600-37504400	Active TSS	Left Ventricle	heart
36	chr6:37503600-37504400	Bivalent/Poised TSS	Psoas Muscle	Psoas
37	chr6:37503600-37504400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr6:37503600-37504600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:37503600-37504600	Enhancers	Gastric	stomach
40	chr6:37503600-37504800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr6:37503600-37504800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr6:37503600-37504800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:37503600-37505000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr6:37503800-37504400	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr6:37503800-37504400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
46	chr6:37503800-37504400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
47	chr6:37503800-37504400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
48	chr6:37503800-37504400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
49	chr6:37503800-37504400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr6:37503800-37504400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

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