Variant report

Variant	rs11984036
Chromosome Location	chr7:6488638-6488639
allele	C/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	chr7:6488616-6489097	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:6486646-6489033	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr7:6488605-6489947	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr7:6488550-6489119	K562	blood:	n/a	n/a
5	POLR2A	chr7:6488619-6489306	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr7:6486379-6490190	HepG2	liver:	n/a	n/a
7	GTF3C2	chr7:6487666-6488719	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr7:6488555-6488740	K562	blood:	n/a	n/a
9	FOSL2	chr7:6487254-6488834	A549	lung:	n/a	n/a
10	POLR2A	chr7:6488555-6489157	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr7:6488481-6489178	HCT-116	colon:	n/a	n/a
12	POLR2A	chr7:6488607-6488748	MCF10A-Er-Src	breast:	n/a	n/a
13	RCOR1	chr7:6486221-6488925	IMR90	lung:	n/a	n/a
14	MXI1	chr7:6486319-6488641	SK-N-SH	brain:	n/a	n/a
15	BHLHE40	chr7:6487250-6489027	HepG2	liver:	n/a	chr7:6487666-6487682 chr7:6488890-6488906

No.	Distal block	Cell Line	Cell type
1	chr7:6485398..6489202-chr7:6520855..6525273,5	MCF-7	breast:
2	chr7:6488240..6490209-chr7:6490613..6492203,2	MCF-7	breast:
3	chr7:6486201..6489628-chr7:6522463..6525039,4	MCF-7	breast:

Variant related genes	Relation type
DAGLB	TF binding region
ENSG00000136240	Chromatin interaction
ENSG00000269781	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11983545	1.00[AMR][1000 genomes]
rs56794632	1.00[AMR][1000 genomes]

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	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
10	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
11	nsv971152	chr7:6485642-6509340	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6486200-6488800	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr7:6486200-6489200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:6486400-6488800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:6486400-6488800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:6486400-6488800	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr7:6488000-6488800	Weak transcription	Gastric	stomach
7	chr7:6488200-6488800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:6488200-6488800	Enhancers	Osteobl	bone
9	chr7:6488200-6489000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:6488200-6489000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr7:6488200-6489000	Enhancers	Primary hematopoietic stem cells	blood
12	chr7:6488200-6489000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr7:6488200-6489000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:6488200-6489000	Enhancers	Fetal Intestine Large	intestine
15	chr7:6488200-6489200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:6488200-6489200	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:6488200-6490600	Enhancers	Placenta	Placenta
18	chr7:6488200-6492800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:6488200-6493200	Weak transcription	HMEC	breast
20	chr7:6488200-6493200	Weak transcription	HSMM	muscle
21	chr7:6488200-6493200	Weak transcription	NH-A	brain
22	chr7:6488200-6493200	Weak transcription	NHLF	lung
23	chr7:6488200-6499600	Weak transcription	Lung	lung
24	chr7:6488200-6499800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:6488200-6499800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:6488200-6500200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:6488200-6500800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:6488400-6488800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:6488400-6488800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:6488400-6488800	Enhancers	Primary B cells from cord blood	blood
31	chr7:6488400-6488800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr7:6488400-6488800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr7:6488400-6488800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:6488400-6488800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:6488400-6488800	Enhancers	Adipose Nuclei	Adipose
36	chr7:6488400-6488800	Enhancers	Brain Germinal Matrix	brain
37	chr7:6488400-6488800	Enhancers	Fetal Brain Female	brain
38	chr7:6488400-6488800	Enhancers	Fetal Muscle Leg	muscle
39	chr7:6488400-6489000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:6488400-6489000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:6488400-6489000	Enhancers	Primary B cells from peripheral blood	blood
42	chr7:6488400-6489000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr7:6488400-6489000	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr7:6488400-6489000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr7:6488400-6489000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:6488400-6489000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:6488400-6489000	Enhancers	Aorta	Aorta
48	chr7:6488400-6489000	Enhancers	Brain Cingulate Gyrus	brain
49	chr7:6488400-6489000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr7:6488400-6489000	Enhancers	Fetal Muscle Trunk	muscle

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