Variant report

Variant	rs73706944
Chromosome Location	chr7:87507756-87507757
allele	C/G
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	chr7:87507667-87507851	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr7:87507705-87507905	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr7:87504491-87515461	K562	blood:	n/a	n/a
4	MAFF	chr7:87506805-87507888	K562	blood:	n/a	chr7:87507149-87507163 chr7:87507143-87507161
5	CHD1	chr7:87507647-87508007	GM12878	blood:	n/a	n/a
6	MXI1	chr7:87503122-87508142	SK-N-SH	brain:	n/a	n/a
7	JUND	chr7:87505355-87507806	K562	blood:	n/a	n/a
8	E2F4	chr7:87507652-87507812	MCF10A-Er-Src	breast:	n/a	n/a
9	MAFK	chr7:87504511-87507991	GM12878	blood:	n/a	chr7:87507146-87507166 chr7:87507150-87507159 chr7:87507150-87507160 chr7:87507149-87507163
10	SETDB1	chr7:87507518-87507909	U2OS	brain:	n/a	n/a
11	TEAD4	chr7:87507435-87507970	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:87466437..87468274-chr7:87505862..87508203,2	K562	blood:
2	chr7:87472656..87475161-chr7:87505830..87507869,2	K562	blood:
3	chr7:87466308..87468274-chr7:87505770..87508203,3	K562	blood:
4	chr7:87505842..87508157-chr7:87515540..87517600,2	MCF-7	breast:
5	chr7:86973027..86976593-chr7:87504303..87507795,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RUNDC3B-3	chr7:87507368-87507872	NONHSAT121850

Variant related genes	Relation type
SLC25A40	TF binding region
ENSG00000182165	Chromatin interaction
ENSG00000006634	Chromatin interaction
ENSG00000075303	Chromatin interaction
ENSG00000005469	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55836201	1.00[AMR][1000 genomes]
rs58230868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60252141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6952344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6952582	1.00[AMR][1000 genomes]
rs6977504	1.00[AMR][1000 genomes]
rs73706930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7782839	1.00[AFR][1000 genomes];1.00[AMR][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	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS 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 miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87503000-87508200	Active TSS	GM12878-XiMat	blood
2	chr7:87503600-87507800	Active TSS	Fetal Intestine Large	intestine
3	chr7:87503600-87508200	Active TSS	Fetal Thymus	thymus
4	chr7:87503600-87508400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:87504000-87508000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:87504200-87507800	Active TSS	NHLF	lung
7	chr7:87504200-87508000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr7:87504400-87508000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr7:87504600-87507800	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr7:87504800-87508000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:87504800-87508000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:87504800-87508000	Active TSS	Thymus	Thymus
13	chr7:87504800-87508200	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr7:87504800-87508200	Active TSS	Fetal Intestine Small	intestine
15	chr7:87505000-87507800	Active TSS	Ovary	ovary
16	chr7:87505000-87508200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:87506400-87508000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:87506400-87508000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:87506600-87507800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:87506600-87516800	Weak transcription	Left Ventricle	heart
21	chr7:87506600-87518800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:87506600-87534400	Weak transcription	Gastric	stomach
23	chr7:87506600-87535200	Weak transcription	Esophagus	oesophagus
24	chr7:87506600-87536800	Weak transcription	Lung	lung
25	chr7:87506600-87539600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:87506600-87539600	Weak transcription	Pancreas	Pancrea
27	chr7:87506800-87508000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:87506800-87508000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:87506800-87508000	Flanking Active TSS	Fetal Lung	lung
30	chr7:87506800-87540400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:87507000-87507800	Active TSS	Duodenum Mucosa	Duodenum
32	chr7:87507000-87507800	Enhancers	Stomach Mucosa	stomach
33	chr7:87507000-87508000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr7:87507000-87508000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr7:87507000-87508400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr7:87507000-87508800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:87507000-87509400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:87507000-87510400	Weak transcription	Brain Substantia Nigra	brain
39	chr7:87507000-87510800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr7:87507000-87514600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr7:87507000-87514600	Weak transcription	Psoas Muscle	Psoas
42	chr7:87507000-87536400	Weak transcription	Placenta	Placenta
43	chr7:87507200-87507800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr7:87507200-87507800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:87507200-87507800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr7:87507200-87508000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr7:87507200-87508000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr7:87507200-87508000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr7:87507200-87508000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:87507200-87508000	Enhancers	Brain Anterior Caudate	brain

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