Variant report

Variant	rs11977474
Chromosome Location	chr7:150434700-150434701
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:150434555-150434820	GM12878	blood:	n/a	n/a
2	SRF	chr7:150434296-150434719	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:150434287-150436204	GM12891	blood:	n/a	n/a
4	CTCF	chr7:150434620-150434770	GM12864	blood:	n/a	n/a
5	POLR2A	chr7:150434395-150434843	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:150434050-150436345	GM12892	blood:	n/a	n/a
7	POLR2A	chr7:150434373-150435129	GM12878	blood:	n/a	n/a
8	ELK1	chr7:150434256-150434706	GM12878	blood:	n/a	n/a
9	BRCA1	chr7:150434622-150434817	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:150434635-150434835	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:150434332-150436034	GM12892	blood:	n/a	n/a
12	STAT5A	chr7:150434253-150435285	GM12878	blood:	n/a	n/a
13	TAF1	chr7:150434397-150434793	GM12891	blood:	n/a	n/a
14	CTCF	chr7:150434650-150434754	GM12892	blood:	n/a	n/a
15	ATF2	chr7:150434209-150435147	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:150434416-150435062	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:150434375-150434922	GM12891	blood:	n/a	n/a
18	POLR2A	chr7:150434219-150435076	GM12878	blood:	n/a	n/a
19	TBP	chr7:150434451-150434834	GM12878	blood:	n/a	n/a
20	WRNIP1	chr7:150434271-150435212	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:150434081-150436563	GM12892	blood:	n/a	n/a
22	MAX	chr7:150434499-150434738	GM12878	blood:	n/a	n/a
23	RUNX3	chr7:150434322-150435186	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:150433739-150436135	GM12891	blood:	n/a	n/a
25	SPI1	chr7:150434181-150434851	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:150434362-150435091	GM12878	blood:	n/a	n/a
27	TAF1	chr7:150434527-150434775	GM12892	blood:	n/a	n/a
28	POLR2A	chr7:150434323-150435508	GM12891	blood:	n/a	n/a
29	POLR2A	chr7:150434201-150436185	GM12892	blood:	n/a	n/a
30	POLR2A	chr7:150433977-150436489	GM12892	blood:	n/a	n/a
31	SMC3	chr7:150434645-150434873	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:150434082-150436015	GM18505	blood:	n/a	n/a
33	MTA3	chr7:150433963-150436163	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:150434252-150435970	GM12891	blood:	n/a	n/a
35	ELF1	chr7:150434361-150434813	GM12878	blood:	n/a	n/a
36	PML	chr7:150434451-150434931	GM12878	blood:	n/a	n/a
37	SPI1	chr7:150434131-150434801	HL-60	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150433868..150435484-chr7:150436619..150439022,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GIMAP5-1	chr7:150434593-150434796	NONHSAT124150

No data

Variant related genes	Relation type
GIMAP5	TF binding region
ENSG00000196329	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11972223	1.00[EUR][1000 genomes]
rs11973850	1.00[EUR][1000 genomes]
rs11977022	1.00[EUR][1000 genomes]
rs11977772	1.00[EUR][1000 genomes]
rs11981041	1.00[EUR][1000 genomes]
rs11983363	1.00[EUR][1000 genomes]
rs11983983	1.00[EUR][1000 genomes]
rs28375807	1.00[EUR][1000 genomes]
rs28651123	1.00[EUR][1000 genomes]
rs28690331	1.00[EUR][1000 genomes]
rs58281055	1.00[EUR][1000 genomes]
rs59056007	1.00[EUR][1000 genomes]
rs59483069	1.00[EUR][1000 genomes]
rs59997037	1.00[EUR][1000 genomes]
rs73478442	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7788154	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7788229	0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7807202	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7808266	1.00[EUR][1000 genomes]
rs9969122	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
4	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
5	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150432600-150435000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:150433000-150434800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr7:150433600-150434800	Weak transcription	Small Intestine	intestine
4	chr7:150433800-150435400	Active TSS	Liver	Liver
5	chr7:150433800-150436800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:150433800-150439200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr7:150434000-150434800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr7:150434000-150435200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
9	chr7:150434000-150435800	Active TSS	Gastric	stomach
10	chr7:150434000-150435800	Active TSS	Spleen	Spleen
11	chr7:150434000-150436200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:150434000-150436800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:150434000-150436800	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr7:150434000-150437000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:150434000-150437200	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr7:150434000-150437400	Active TSS	Brain Anterior Caudate	brain
17	chr7:150434000-150437400	Active TSS	Colonic Mucosa	Colon
18	chr7:150434000-150437600	Active TSS	Lung	lung
19	chr7:150434000-150437600	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr7:150434000-150437600	Active TSS	Right Ventricle	heart
21	chr7:150434000-150437800	Active TSS	Rectal Smooth Muscle	rectum
22	chr7:150434000-150438000	Active TSS	Right Atrium	heart
23	chr7:150434200-150434800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:150434200-150435400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
25	chr7:150434200-150435800	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr7:150434200-150435800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr7:150434200-150435800	Bivalent/Poised TSS	Placenta	Placenta
28	chr7:150434200-150435800	Active TSS	Pancreas	Pancrea
29	chr7:150434200-150436000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:150434200-150436000	Active TSS	Esophagus	oesophagus
31	chr7:150434200-150436200	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr7:150434200-150437000	Active TSS	Primary T cells from cord blood	blood
33	chr7:150434200-150437200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:150434200-150437200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr7:150434200-150437400	Active TSS	Primary T cells fromperipheralblood	blood
36	chr7:150434200-150437600	Active TSS	Brain Hippocampus Middle	brain
37	chr7:150434200-150437600	Active TSS	Left Ventricle	heart
38	chr7:150434200-150437600	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr7:150434200-150437800	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr7:150434200-150437800	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr7:150434200-150438000	Active TSS	Duodenum Mucosa	Duodenum
42	chr7:150434200-150438000	Active TSS	Psoas Muscle	Psoas
43	chr7:150434400-150434800	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr7:150434400-150434800	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr7:150434400-150434800	Active TSS	GM12878-XiMat	blood
46	chr7:150434400-150435200	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr7:150434400-150435400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr7:150434400-150435400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
49	chr7:150434400-150435600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
50	chr7:150434400-150435600	Active TSS	Ovary	ovary

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