Variant report

Variant	rs6979313
Chromosome Location	chr7:2915500-2915501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:2903257..2906477-chr7:2913665..2917327,3	K562	blood:
2	chr7:2902294..2906267-chr7:2911344..2915860,6	MCF-7	breast:
3	chr7:2902048..2907034-chr7:2912028..2916176,7	K562	blood:
4	chr7:2913908..2916162-chr7:3122594..3124369,2	MCF-7	breast:
5	chr7:2907345..2909750-chr7:2913621..2916060,3	K562	blood:
6	chr7:2899669..2908273-chr7:2908845..2917311,19	MCF-7	breast:
7	chr7:2913535..2915898-chr7:3339712..3342447,2	MCF-7	breast:
8	chr7:2912477..2915576-chr7:3192783..3198437,6	MCF-7	breast:
9	chr7:2753727..2755444-chr7:2914666..2916537,2	MCF-7	breast:
10	chr7:2794522..2796441-chr7:2912827..2915695,3	MCF-7	breast:
11	chr7:2685231..2686928-chr7:2913627..2916260,2	MCF-7	breast:
12	chr7:2912621..2916379-chr7:3234649..3238028,4	MCF-7	breast:
13	chr7:2914055..2915867-chr7:3204506..3206043,2	MCF-7	breast:
14	chr7:2882613..2885726-chr7:2911759..2915688,5	MCF-7	breast:
15	chr7:2726315..2729215-chr7:2912425..2915656,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236708	Chromatin interaction
ENSG00000146535	Chromatin interaction
ENSG00000174945	Chromatin interaction
ENSG00000146555	Chromatin interaction
ENSG00000231892	Chromatin interaction
ENSG00000217455	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12532405	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12533845	0.92[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12533867	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66975137	0.84[AMR][1000 genomes]
rs6955710	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6956368	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6964874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6972737	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6977940	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73033497	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73033498	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73033501	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73035208	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73035210	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73035212	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73035221	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73035223	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv887313	chr7:2875420-2927120	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv887314	chr7:2875420-2944187	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv887315	chr7:2895627-2935424	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1022938	chr7:2899514-3131881	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv526132	chr7:2904928-2968361	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv887316	chr7:2904928-2983520	Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv887317	chr7:2911972-2944187	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv971481	chr7:2913356-2925013	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2903600-2921600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:2903800-2915800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:2903800-2919000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:2905200-2919000	Weak transcription	Fetal Brain Male	brain
5	chr7:2910200-2915600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:2910200-2915800	Weak transcription	Pancreas	Pancrea
7	chr7:2910600-2915600	Weak transcription	Brain Germinal Matrix	brain
8	chr7:2910600-2918800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:2910800-2918800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:2910800-2919000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:2911600-2917800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:2911600-2918600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:2911800-2917200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:2911800-2917800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr7:2912000-2915600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:2912400-2915800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:2912600-2919800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:2912800-2916000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:2912800-2916400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:2912800-2916400	Enhancers	NHEK	skin
21	chr7:2913000-2918800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:2913200-2920800	Weak transcription	Right Atrium	heart
23	chr7:2913400-2918600	Weak transcription	Spleen	Spleen
24	chr7:2913600-2915600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:2913600-2917800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr7:2913600-2919000	Weak transcription	Fetal Kidney	kidney
27	chr7:2913800-2915600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:2913800-2915600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:2914000-2915800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:2914200-2915600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:2914200-2915600	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:2914200-2916200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:2914200-2918000	Weak transcription	HUVEC	blood vessel
34	chr7:2914200-2918200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr7:2914600-2915800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr7:2914600-2916600	Enhancers	HMEC	breast
37	chr7:2914800-2916400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:2914800-2917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:2914800-2918000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:2914800-2918600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:2915000-2916000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr7:2915000-2917800	Weak transcription	Primary T cells from cord blood	blood
43	chr7:2915000-2917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:2915200-2916200	Enhancers	NH-A	brain
45	chr7:2915200-2916400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr7:2915200-2917600	Weak transcription	Fetal Thymus	thymus
47	chr7:2915400-2916000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr7:2915400-2916200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:2915400-2916200	Enhancers	Osteobl	bone
50	chr7:2915400-2916400	Enhancers	HUES6 Cell Line	embryonic stem cell

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