Variant report

Variant	rs73451617
Chromosome Location	chr7:70122807-70122808
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:70116058..70119019-chr7:70120958..70123553,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4354214	1.00[AMR][1000 genomes]
rs73451619	1.00[AMR][1000 genomes]
rs73451621	1.00[AMR][1000 genomes]
rs73451622	1.00[AMR][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	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	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
12	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
13	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
14	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
15	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
16	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
17	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
18	nsv1029811	chr7:70106102-70133588	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70101000-70158200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:70103400-70133600	Weak transcription	Fetal Intestine Small	intestine
3	chr7:70103600-70125400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:70107000-70143800	Weak transcription	Primary B cells from cord blood	blood
5	chr7:70107400-70126200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:70109600-70127000	Weak transcription	Esophagus	oesophagus
7	chr7:70109600-70132600	Weak transcription	Liver	Liver
8	chr7:70110800-70128800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:70111600-70126200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:70111800-70126200	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:70112800-70146000	Weak transcription	Spleen	Spleen
12	chr7:70113200-70123000	Weak transcription	Thymus	Thymus
13	chr7:70113200-70125600	Weak transcription	Fetal Brain Female	brain
14	chr7:70114000-70128000	Weak transcription	Dnd41	blood
15	chr7:70115200-70126800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:70118200-70125800	Weak transcription	Gastric	stomach
17	chr7:70119800-70123800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr7:70120000-70125000	Enhancers	Fetal Muscle Leg	muscle
19	chr7:70120200-70124400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr7:70120200-70127400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr7:70120400-70123400	Enhancers	Left Ventricle	heart
22	chr7:70120600-70123600	Enhancers	Fetal Heart	heart
23	chr7:70120600-70126800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:70120600-70127000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:70120600-70133200	Weak transcription	Aorta	Aorta
26	chr7:70120600-70141600	Weak transcription	Brain Anterior Caudate	brain
27	chr7:70120800-70123000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:70120800-70138800	Weak transcription	Right Atrium	heart
29	chr7:70121600-70123400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:70121600-70123400	Enhancers	Fetal Stomach	stomach
31	chr7:70121600-70126200	Enhancers	Fetal Thymus	thymus
32	chr7:70121600-70133200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:70121800-70124400	Weak transcription	Right Ventricle	heart
34	chr7:70121800-70127400	Weak transcription	Fetal Lung	lung
35	chr7:70122000-70124400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:70122000-70125800	Enhancers	Primary T cells from cord blood	blood
37	chr7:70122200-70123000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr7:70122200-70123800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:70122600-70123000	Enhancers	H9 Cell Line	embryonic stem cell
40	chr7:70122600-70123000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr7:70122600-70123200	Enhancers	Adipose Nuclei	Adipose
42	chr7:70122800-70123600	Enhancers	Psoas Muscle	Psoas
43	chr7:70122800-70127000	Enhancers	Primary T cells fromperipheralblood	blood

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