Variant report

Variant	rs836548
Chromosome Location	chr7:6439448-6439449
allele	A/T
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	chr7:6439402-6439547	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr7:6439437-6439718	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6413015..6417903-chr7:6435938..6439469,5	MCF-7	breast:

Variant related genes	Relation type
RAC1	TF binding region
ENSG00000136238	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10951982	0.90[CEU][hapmap]
rs11514804	0.80[EUR][1000 genomes]
rs12536544	1.00[CEU][hapmap];0.87[JPT][hapmap];0.97[EUR][1000 genomes]
rs1880118	0.84[CEU][hapmap]
rs2347339	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs33986648	0.81[EUR][1000 genomes]
rs35733871	0.80[EUR][1000 genomes]
rs3729790	0.85[CEU][hapmap]
rs702484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs702486	0.92[CHB][hapmap]
rs7456834	0.85[CEU][hapmap]
rs836468	0.82[AFR][1000 genomes]
rs836470	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs836472	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs836508	0.92[CHB][hapmap]
rs836509	0.92[CHB][hapmap]
rs836516	0.85[CHB][hapmap]
rs836534	0.92[CHB][hapmap]
rs836550	0.85[ASN][1000 genomes]
rs9374	0.90[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv605999	chr7:6396719-6472881	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs836548	DAGLB	cis	Adipose Subcutaneous	GTEx
rs836548	DAGLB	cis	Nerve Tibial	GTEx
rs836548	RAC1	Cis_1M	lymphoblastoid	RTeQTL
rs836548	DAGLB	cis	Whole Blood	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6426000-6456400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:6426000-6475600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:6426400-6457400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:6433200-6441200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:6433600-6441200	Weak transcription	Fetal Kidney	kidney
6	chr7:6433800-6440600	Weak transcription	HSMMtube	muscle
7	chr7:6434000-6439600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:6434000-6439600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:6434200-6441200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:6434200-6441200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:6434400-6439600	Weak transcription	Aorta	Aorta
12	chr7:6434400-6440800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:6435600-6439600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:6436000-6440200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:6436000-6440800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:6436000-6444800	Weak transcription	Fetal Brain Male	brain
17	chr7:6436200-6439600	Weak transcription	HUVEC	blood vessel
18	chr7:6436200-6440800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:6436200-6441000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:6436200-6441200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr7:6436200-6448200	Weak transcription	Small Intestine	intestine
22	chr7:6436400-6439600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:6437000-6439600	Enhancers	Psoas Muscle	Psoas
24	chr7:6437200-6439600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr7:6437200-6439800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr7:6437200-6439800	Enhancers	Right Ventricle	heart
27	chr7:6437200-6449000	Strong transcription	Fetal Stomach	stomach
28	chr7:6437400-6439800	Enhancers	Pancreas	Pancrea
29	chr7:6437400-6440200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:6437400-6440200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:6437400-6440200	Enhancers	Brain Angular Gyrus	brain
32	chr7:6437400-6457400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:6437400-6457400	Strong transcription	Dnd41	blood
34	chr7:6437600-6439600	Enhancers	Placenta	Placenta
35	chr7:6437600-6439600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
36	chr7:6437600-6439800	Genic enhancers	Primary monocytes fromperipheralblood	blood
37	chr7:6437600-6439800	Genic enhancers	Muscle Satellite Cultured Cells	--
38	chr7:6437600-6439800	Genic enhancers	Duodenum Mucosa	Duodenum
39	chr7:6437600-6440200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:6437600-6440200	Enhancers	Fetal Heart	heart
41	chr7:6437600-6440200	Enhancers	Placenta Amnion	Placenta Amnion
42	chr7:6437600-6440200	Enhancers	Stomach Mucosa	stomach
43	chr7:6437600-6440200	Genic enhancers	A549	lung
44	chr7:6437600-6440400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:6437600-6440400	Genic enhancers	HepG2	liver
46	chr7:6437600-6444000	Strong transcription	K562	blood
47	chr7:6437600-6470400	Strong transcription	Fetal Brain Female	brain
48	chr7:6437800-6439800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:6437800-6439800	Flanking Active TSS	HMEC	breast
50	chr7:6437800-6439800	Genic enhancers	HSMM	muscle

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