Variant report

Variant	rs73182119
Chromosome Location	chr7:70162541-70162542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10254837	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17604413	0.87[AMR][1000 genomes]
rs4075496	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55954837	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56010262	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56263157	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6942750	1.00[AFR][1000 genomes]
rs73165361	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73165366	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73165383	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73165392	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73165396	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73181075	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73182132	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7779509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794753	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1029757	chr7:70061656-70190100	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv538932	chr7:70061656-70190100	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1030496	chr7:70067475-70221743	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1017876	chr7:70073764-70434599	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
17	nsv1031761	chr7:70125949-70182744	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv538933	chr7:70125949-70182744	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70158400-70163600	Active TSS	Brain Anterior Caudate	brain
2	chr7:70158600-70164000	Active TSS	GM12878-XiMat	blood
3	chr7:70158800-70162600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:70158800-70163600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr7:70160600-70163400	Active TSS	Fetal Brain Male	brain
6	chr7:70160600-70164200	Active TSS	Fetal Brain Female	brain
7	chr7:70161000-70163000	Flanking Active TSS	Dnd41	blood
8	chr7:70161000-70163200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:70161000-70165200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:70161200-70163000	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr7:70161200-70169400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
12	chr7:70161400-70164200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:70161400-70165400	Weak transcription	Small Intestine	intestine
14	chr7:70161400-70166000	Weak transcription	Gastric	stomach
15	chr7:70161400-70167200	Weak transcription	Esophagus	oesophagus
16	chr7:70161400-70172600	Weak transcription	Left Ventricle	heart
17	chr7:70161400-70174800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:70161400-70178000	Weak transcription	Lung	lung
19	chr7:70161600-70162800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:70161600-70163000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr7:70161600-70163400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr7:70161600-70163600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:70161600-70164800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:70161600-70164800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:70161600-70165800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:70161600-70165800	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:70161600-70167200	Weak transcription	Brain Substantia Nigra	brain
28	chr7:70161600-70168600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:70161600-70172200	Weak transcription	Ovary	ovary
30	chr7:70161600-70173000	Weak transcription	Colonic Mucosa	Colon
31	chr7:70161800-70162800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:70161800-70162800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:70161800-70162800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:70161800-70162800	Weak transcription	Fetal Intestine Small	intestine
35	chr7:70161800-70162800	Weak transcription	Fetal Kidney	kidney
36	chr7:70161800-70162800	Weak transcription	Fetal Muscle Leg	muscle
37	chr7:70161800-70162800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:70161800-70162800	Weak transcription	HSMM	muscle
39	chr7:70161800-70163200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:70161800-70163200	Weak transcription	HSMMtube	muscle
41	chr7:70161800-70163400	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr7:70161800-70163800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr7:70161800-70164000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:70161800-70164000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr7:70161800-70164000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr7:70161800-70164200	Weak transcription	Adipose Nuclei	Adipose
47	chr7:70161800-70164200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:70161800-70164200	Weak transcription	Fetal Thymus	thymus
49	chr7:70161800-70164800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:70161800-70164800	Weak transcription	Duodenum Mucosa	Duodenum

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