Variant report

Variant	rs73706115
Chromosome Location	chr7:70060751-70060752
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56119758	0.90[AFR][1000 genomes]
rs73706113	0.90[AFR][1000 genomes]
rs73706114	1.00[AFR][1000 genomes]
rs73706116	0.90[AFR][1000 genomes]
rs73706117	0.90[AFR][1000 genomes]
rs73706119	0.90[AFR][1000 genomes]
rs73706193	0.90[AFR][1000 genomes]
rs73706197	1.00[AFR][1000 genomes]
rs73706198	0.90[AFR][1000 genomes]
rs73706201	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025522	chr7:69971452-70173513	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1032378	chr7:70010392-70190353	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538929	chr7:70010392-70190353	Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024498	chr7:70016323-70190353	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538930	chr7:70016323-70190353	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1024524	chr7:70031241-70138924	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv522876	chr7:70050442-70071979	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70036800-70060800	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:70045400-70060800	Weak transcription	Gastric	stomach
3	chr7:70060000-70060800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:70060000-70061400	Enhancers	Spleen	Spleen
5	chr7:70060200-70060800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr7:70060200-70060800	Enhancers	Esophagus	oesophagus
7	chr7:70060200-70060800	Enhancers	Ovary	ovary
8	chr7:70060200-70061000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:70060200-70061000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:70060200-70061200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr7:70060200-70062000	Bivalent Enhancer	Placenta	Placenta
12	chr7:70060200-70062600	Bivalent/Poised TSS	Fetal Brain Female	brain
13	chr7:70060400-70060800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:70060400-70060800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
15	chr7:70060400-70060800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
16	chr7:70060400-70060800	Enhancers	Liver	Liver
17	chr7:70060400-70060800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:70060400-70060800	Bivalent Enhancer	Fetal Intestine Large	intestine
19	chr7:70060400-70060800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr7:70060400-70060800	Bivalent Enhancer	Fetal Stomach	stomach
21	chr7:70060400-70061000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:70060400-70061400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr7:70060400-70061400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:70060400-70061400	Bivalent Enhancer	Fetal Thymus	thymus
25	chr7:70060400-70064600	Active TSS	Brain Anterior Caudate	brain
26	chr7:70060600-70060800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:70060600-70060800	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
28	chr7:70060600-70060800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
29	chr7:70060600-70060800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
30	chr7:70060600-70060800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:70060600-70060800	Bivalent/Poised TSS	Primary B cells from cord blood	blood
32	chr7:70060600-70060800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:70060600-70060800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:70060600-70060800	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr7:70060600-70060800	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr7:70060600-70060800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr7:70060600-70060800	Bivalent Enhancer	Fetal Intestine Small	intestine
38	chr7:70060600-70060800	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr7:70060600-70060800	Enhancers	Psoas Muscle	Psoas
40	chr7:70060600-70060800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr7:70060600-70060800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
42	chr7:70060600-70060800	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr7:70060600-70061000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
44	chr7:70060600-70061000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
45	chr7:70060600-70061000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:70060600-70061000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr7:70060600-70061000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
48	chr7:70060600-70061000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:70060600-70061000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:70060600-70061000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose

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