Variant report

Variant	rs7800693
Chromosome Location	chr7:150146293-150146294
allele	A/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	SMC3	chr7:150145536-150146342	SK-N-SH	brain:	n/a	chr7:150145949-150145963
2	CTCF	chr7:150146280-150146430	GM12864	blood:	n/a	n/a
3	CTCF	chr7:150145513-150146503	A549	lung:	n/a	chr7:150145949-150145970 chr7:150145950-150145959 chr7:150145947-150145965 chr7:150145950-150145963 chr7:150145948-150145964
4	ELF1	chr7:150145723-150146409	GM12878	blood:	n/a	n/a
5	MTA3	chr7:150145225-150146999	GM12878	blood:	n/a	n/a
6	SMC3	chr7:150145572-150146545	GM12878	blood:	n/a	chr7:150145949-150145963
7	POLR2A	chr7:150145204-150149620	GM12891	blood:	n/a	n/a
8	CTCF	chr7:150145661-150146299	HCT-116	colon:	n/a	chr7:150145949-150145970 chr7:150145950-150145959 chr7:150145947-150145965 chr7:150145950-150145963 chr7:150145948-150145964
9	RAD21	chr7:150145676-150146526	GM12878	blood:	n/a	chr7:150145951-150145964 chr7:150145948-150145967
10	NFATC1	chr7:150145559-150146545	GM12878	blood:	n/a	n/a
11	BHLHE40	chr7:150145772-150146300	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:150145252-150146862	GM12878	blood:	n/a	n/a
13	RAD21	chr7:150145706-150146334	HCT-116	colon:	n/a	chr7:150145951-150145964 chr7:150145948-150145967
14	POLR2A	chr7:150145293-150146917	GM12878	blood:	n/a	n/a
15	RAD21	chr7:150145410-150146431	SK-N-SH	brain:	n/a	chr7:150145951-150145964 chr7:150145948-150145967
16	MAFK	chr7:150145192-150146769	GM12878	blood:	n/a	chr7:150146081-150146092 chr7:150146046-150146061 chr7:150145887-150145896 chr7:150146081-150146092 chr7:150145886-150145900 chr7:150146076-150146091 chr7:150145887-150145897
17	CTCF	chr7:150145245-150146487	SK-N-SH	brain:	n/a	chr7:150145949-150145970 chr7:150145950-150145959 chr7:150145947-150145965 chr7:150145950-150145963 chr7:150145948-150145964 chr7:150145324-150145332
18	RAD21	chr7:150145583-150146315	H1-hESC	embryonic stem cell:	n/a	chr7:150145951-150145964 chr7:150145948-150145967
19	RAD21	chr7:150145612-150146323	HCT-116	colon:	n/a	chr7:150145951-150145964 chr7:150145948-150145967
20	FOXM1	chr7:150145624-150146328	GM12878	blood:	n/a	n/a
21	CTCF	chr7:150146240-150146390	BE2_C	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150145854..150146458-chr7:150573963..150574703,2	MCF-7	breast:
2	chr7:150144587..150147528-chr7:150148010..150150013,2	MCF-7	breast:
3	chr7:150145478..150147252-chr7:150156941..150159587,2	K562	blood:
4	chr7:150145471..150146422-chr7:150453633..150454441,6	MCF-7	breast:
5	chr7:150145915..150146419-chr7:150454086..150454618,2	K562	blood:
6	chr7:150145638..150146445-chr7:150454084..150454591,2	MCF-7	breast:

Variant related genes	Relation type
GIMAP8	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6961774	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6961845	1.00[AMR][1000 genomes]
rs73726131	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7790477	0.81[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	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	esv1819714	chr7:150055837-150154944	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150126600-150148000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:150131400-150147600	Weak transcription	Colonic Mucosa	Colon
3	chr7:150140600-150147600	Enhancers	Fetal Thymus	thymus
4	chr7:150143800-150147600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:150144000-150147600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:150144200-150147400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:150144400-150148000	Weak transcription	Small Intestine	intestine
8	chr7:150145000-150146800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:150145000-150147400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:150145200-150146800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr7:150145400-150146400	Weak transcription	Lung	lung
12	chr7:150145400-150146600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:150145400-150146600	Enhancers	Brain Substantia Nigra	brain
14	chr7:150145400-150147000	Bivalent Enhancer	Placenta	Placenta
15	chr7:150145400-150147400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:150145400-150147600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:150145400-150147600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:150145400-150147600	Enhancers	Liver	Liver
19	chr7:150145600-150146400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
20	chr7:150145600-150146400	Enhancers	Brain Angular Gyrus	brain
21	chr7:150145600-150146400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr7:150145600-150146400	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr7:150145600-150146600	Enhancers	Brain Anterior Caudate	brain
24	chr7:150145600-150146600	Flanking Active TSS	Dnd41	blood
25	chr7:150145600-150146800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr7:150145600-150146800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr7:150145600-150147000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr7:150145600-150147000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr7:150145600-150147000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr7:150145600-150147200	Enhancers	Adipose Nuclei	Adipose
31	chr7:150145600-150147400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr7:150145600-150147400	Enhancers	Brain Hippocampus Middle	brain
33	chr7:150145600-150147400	Enhancers	HUVEC	blood vessel
34	chr7:150145600-150147800	Enhancers	Spleen	Spleen
35	chr7:150145600-150148000	Enhancers	Primary B cells from cord blood	blood
36	chr7:150145600-150148200	Enhancers	Primary hematopoietic stem cells	blood
37	chr7:150145600-150148400	Enhancers	Fetal Heart	heart
38	chr7:150145800-150146800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:150145800-150147800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr7:150146000-150146400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr7:150146000-150146400	Enhancers	Stomach Mucosa	stomach
42	chr7:150146000-150146600	Enhancers	Brain Cingulate Gyrus	brain
43	chr7:150146000-150146600	Enhancers	Colon Smooth Muscle	Colon
44	chr7:150146000-150146600	Active TSS	Rectal Smooth Muscle	rectum
45	chr7:150146000-150146800	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr7:150146000-150146800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr7:150146000-150146800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr7:150146000-150146800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr7:150146000-150146800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr7:150146000-150147600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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