Variant report

Variant	rs73704602
Chromosome Location	chr7:70145279-70145280
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10250867	1.00[EUR][1000 genomes]
rs13437713	1.00[EUR][1000 genomes]
rs16869191	1.00[EUR][1000 genomes]
rs17142062	1.00[EUR][1000 genomes]
rs1881012	1.00[EUR][1000 genomes]
rs6974008	1.00[EUR][1000 genomes]
rs7458754	1.00[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:41 , 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	chr7:70112800-70146000	Weak transcription	Spleen	Spleen
3	chr7:70123800-70146800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:70132400-70145400	Weak transcription	Fetal Brain Female	brain
5	chr7:70133800-70158000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:70134000-70145400	Weak transcription	Liver	Liver
7	chr7:70134400-70147600	Weak transcription	Esophagus	oesophagus
8	chr7:70139200-70157800	Weak transcription	Right Atrium	heart
9	chr7:70141600-70152800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:70143000-70146800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr7:70143000-70148000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:70143400-70145600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:70143600-70145400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr7:70143600-70145600	Enhancers	Osteobl	bone
15	chr7:70143600-70146800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:70143800-70145400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:70143800-70146200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr7:70144000-70149400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:70144200-70145400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:70144200-70146600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:70144400-70145400	Enhancers	Fetal Heart	heart
22	chr7:70144400-70146800	Weak transcription	Fetal Thymus	thymus
23	chr7:70144600-70146600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:70144600-70146800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr7:70144800-70145600	Enhancers	Fetal Kidney	kidney
26	chr7:70144800-70146000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
27	chr7:70144800-70146000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
28	chr7:70144800-70146000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
29	chr7:70145000-70145400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
30	chr7:70145000-70145400	Weak transcription	Primary T cells from cord blood	blood
31	chr7:70145000-70146200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:70145000-70146400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:70145000-70146600	Weak transcription	Fetal Stomach	stomach
34	chr7:70145000-70146600	Enhancers	GM12878-XiMat	blood
35	chr7:70145000-70147400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:70145200-70145600	Flanking Active TSS	NHDF-Ad	bronchial
37	chr7:70145200-70146000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
38	chr7:70145200-70146000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr7:70145200-70146200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:70145200-70146200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:70145200-70146800	Weak transcription	Dnd41	blood

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