Variant report

Variant	rs60730983
Chromosome Location	chr7:2820442-2820443
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2797742..2801425-chr7:2817123..2820574,4	K562	blood:
2	chr7:2812131..2814669-chr7:2818641..2821283,2	MCF-7	breast:
3	chr7:2808555..2810059-chr7:2820256..2822497,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146535	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11972536	1.00[EUR][1000 genomes]
rs28493200	1.00[EUR][1000 genomes]
rs28507235	1.00[EUR][1000 genomes]
rs41327044	1.00[EUR][1000 genomes]
rs41435148	1.00[EUR][1000 genomes]
rs41447249	1.00[EUR][1000 genomes]
rs41455246	1.00[EUR][1000 genomes]
rs59184679	1.00[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	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	nsv1024023	chr7:2726210-2829581	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv538653	chr7:2726210-2829581	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	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
6	nsv1032282	chr7:2789555-2820774	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	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
8	esv2761071	chr7:2811338-2822933	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	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
10	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

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2789200-2831600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:2790000-2830400	Weak transcription	Aorta	Aorta
3	chr7:2797600-2831200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:2798000-2827400	Weak transcription	Thymus	Thymus
5	chr7:2799200-2827200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:2799600-2825600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:2801000-2827600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:2801000-2829600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:2801000-2831600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:2801000-2831600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:2802600-2826400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:2803200-2822600	Weak transcription	Right Ventricle	heart
13	chr7:2803400-2833400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:2803600-2820800	Weak transcription	Fetal Heart	heart
15	chr7:2803600-2822200	Weak transcription	HUVEC	blood vessel
16	chr7:2803600-2822600	Weak transcription	Left Ventricle	heart
17	chr7:2803600-2824200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:2803600-2826800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:2803800-2821000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:2803800-2823800	Weak transcription	NH-A	brain
21	chr7:2803800-2824200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:2804400-2821200	Weak transcription	NHDF-Ad	bronchial
23	chr7:2807800-2827000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:2810600-2842600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:2810800-2840800	Weak transcription	Stomach Mucosa	stomach
26	chr7:2811400-2824800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:2811600-2824200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:2812600-2831400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:2813600-2821800	Weak transcription	GM12878-XiMat	blood
30	chr7:2813800-2821200	Weak transcription	Osteobl	bone
31	chr7:2813800-2825200	Weak transcription	HSMM	muscle
32	chr7:2813800-2829200	Weak transcription	Esophagus	oesophagus
33	chr7:2814000-2822600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr7:2814200-2823800	Weak transcription	Lung	lung
35	chr7:2814400-2838800	Weak transcription	K562	blood
36	chr7:2814600-2824200	Weak transcription	Fetal Kidney	kidney
37	chr7:2815000-2821000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:2815000-2822400	Weak transcription	A549	lung
39	chr7:2815000-2822800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:2815000-2825800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:2815600-2822600	Weak transcription	Brain Germinal Matrix	brain
42	chr7:2815600-2829200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:2815600-2831600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:2815800-2824200	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:2815800-2824400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:2815800-2840600	Weak transcription	Fetal Brain Male	brain
47	chr7:2816000-2821400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr7:2816000-2824200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:2816200-2821200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr7:2816200-2822600	Weak transcription	Pancreas	Pancrea

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