Variant report

Variant	rs2013939
Chromosome Location	chr7:2864362-2864363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2848223..2850269-chr7:2862070..2864443,2	MCF-7	breast:
2	chr7:2861025..2862941-chr7:2863044..2865953,2	K562	blood:
3	chr7:2861786..2864969-chr7:2867313..2871458,3	MCF-7	breast:
4	chr7:2861030..2862759-chr7:2864211..2866084,2	MCF-7	breast:
5	chr7:2863813..2865647-chr7:2882548..2884596,2	MCF-7	breast:
6	chr7:2861792..2865677-chr7:2882259..2884341,3	K562	blood:
7	chr7:2861472..2864463-chr7:2865444..2867684,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146535	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10487576	0.92[EUR][1000 genomes]
rs10487577	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16870623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132636	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17132643	0.84[EUR][1000 genomes]
rs17132648	0.92[EUR][1000 genomes]
rs17132655	0.92[EUR][1000 genomes]
rs17132661	0.92[EUR][1000 genomes]
rs17132663	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17132669	0.92[EUR][1000 genomes]
rs17132685	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132693	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132706	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132714	1.00[EUR][1000 genomes]
rs17132722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17150393	0.92[EUR][1000 genomes]
rs2013926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41308332	0.82[EUR][1000 genomes]
rs57065076	0.92[EUR][1000 genomes]
rs57344547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6978793	0.92[EUR][1000 genomes]
rs7790221	1.00[CEU][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv1018162	chr7:2817460-2891181	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv538655	chr7:2817460-2891181	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv1019463	chr7:2848448-2881872	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2842600-2869400	Weak transcription	Primary T cells from cord blood	blood
2	chr7:2843200-2864400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr7:2843600-2864400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr7:2848800-2874800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:2849600-2866000	Enhancers	Placenta	Placenta
6	chr7:2851600-2869600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:2851800-2882800	Weak transcription	Aorta	Aorta
8	chr7:2854000-2874800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:2857000-2864600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:2857000-2865000	Enhancers	Ovary	ovary
11	chr7:2857000-2867000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:2857200-2865400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:2858200-2865600	Enhancers	Right Ventricle	heart
14	chr7:2858200-2868200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:2858400-2865600	Enhancers	Left Ventricle	heart
16	chr7:2858600-2864600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:2860000-2864800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:2860000-2866000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr7:2860400-2864600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:2860400-2865400	Enhancers	Brain Hippocampus Middle	brain
21	chr7:2860400-2865600	Enhancers	Primary B cells from peripheral blood	blood
22	chr7:2860400-2865600	Enhancers	Spleen	Spleen
23	chr7:2860400-2865600	Enhancers	NHLF	lung
24	chr7:2860600-2865600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:2860600-2865600	Enhancers	Lung	lung
26	chr7:2860800-2865400	Enhancers	HSMMtube	muscle
27	chr7:2861000-2867000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr7:2861000-2881800	Weak transcription	Colonic Mucosa	Colon
29	chr7:2861200-2877000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr7:2861400-2864400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:2861400-2864600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:2861400-2864800	Weak transcription	Fetal Intestine Small	intestine
33	chr7:2861400-2865000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr7:2861400-2874000	Weak transcription	Dnd41	blood
35	chr7:2861400-2876600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:2861400-2882200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr7:2861400-2883000	Weak transcription	Thymus	Thymus
38	chr7:2861600-2864400	Weak transcription	Fetal Thymus	thymus
39	chr7:2861600-2864600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr7:2861600-2865600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:2861600-2867000	Weak transcription	Fetal Intestine Large	intestine
42	chr7:2861800-2864600	Weak transcription	Fetal Kidney	kidney
43	chr7:2861800-2874600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr7:2861800-2882400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr7:2862000-2870600	Weak transcription	Hela-S3	cervix
46	chr7:2862200-2864800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr7:2862200-2865600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:2862200-2865600	Enhancers	NH-A	brain
49	chr7:2862200-2865800	Enhancers	Fetal Lung	lung
50	chr7:2862200-2882600	Weak transcription	Placenta Amnion	Placenta Amnion

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