Variant report

Variant	rs17604413
Chromosome Location	chr7:70213534-70213535
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	chr7:70212124..70215899-chr7:70217656..70219621,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1983488	0.81[ASN][1000 genomes]
rs4075496	0.87[AMR][1000 genomes]
rs55954837	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56010262	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56115165	0.95[ASN][1000 genomes]
rs6942467	0.81[ASN][1000 genomes]
rs6942750	0.86[EUR][1000 genomes]
rs73165361	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73165366	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73165383	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73165392	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73165396	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73170214	0.81[ASN][1000 genomes]
rs73181075	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73182119	0.87[AMR][1000 genomes]
rs73182132	0.87[AMR][1000 genomes]
rs7779509	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7794753	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7803932	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv1022747	chr7:70169254-70301285	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv429771	chr7:70188375-70294296	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv831022	chr7:70189351-70238179	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv916183	chr7:70189900-70220746	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1021274	chr7:70190293-70221743	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1034308	chr7:70190293-70230601	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv538934	chr7:70190293-70230601	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv607433	chr7:70190384-70223193	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1028853	chr7:70211620-70523331	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70195800-70227600	Weak transcription	Fetal Intestine Small	intestine
2	chr7:70198400-70218000	Weak transcription	Dnd41	blood
3	chr7:70202000-70227600	Weak transcription	Fetal Intestine Large	intestine
4	chr7:70202400-70213800	Weak transcription	HSMMtube	muscle
5	chr7:70202400-70217800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:70202400-70227200	Weak transcription	Brain Angular Gyrus	brain
7	chr7:70202400-70230000	Weak transcription	Fetal Thymus	thymus
8	chr7:70203400-70214200	Weak transcription	HSMM	muscle
9	chr7:70203800-70214200	Weak transcription	Gastric	stomach
10	chr7:70204200-70217000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:70205400-70213600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:70205400-70213600	Weak transcription	Psoas Muscle	Psoas
13	chr7:70205400-70227200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:70205600-70214400	Weak transcription	Primary T cells from cord blood	blood
15	chr7:70206000-70213600	Weak transcription	Liver	Liver
16	chr7:70206400-70217200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:70207000-70230000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:70207400-70214200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:70208800-70213600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:70209400-70213600	Weak transcription	NHEK	skin
21	chr7:70209400-70226000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:70209600-70213600	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:70209800-70213600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:70209800-70213800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:70209800-70214000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:70209800-70214200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:70209800-70216000	Weak transcription	Right Atrium	heart
28	chr7:70209800-70219200	Weak transcription	GM12878-XiMat	blood
29	chr7:70209800-70227600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:70209800-70227600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:70210000-70213800	Weak transcription	Esophagus	oesophagus
32	chr7:70210000-70214400	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:70210000-70216000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:70210000-70216200	Weak transcription	Fetal Stomach	stomach
35	chr7:70210000-70216400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:70210000-70217000	Weak transcription	Ovary	ovary
37	chr7:70210200-70213600	Weak transcription	Brain Anterior Caudate	brain
38	chr7:70210400-70215800	Weak transcription	Brain Substantia Nigra	brain
39	chr7:70210600-70213600	Weak transcription	Fetal Brain Male	brain
40	chr7:70210800-70214800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:70210800-70215800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:70211800-70213800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:70211800-70224200	Weak transcription	Lung	lung
44	chr7:70212200-70214000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:70212200-70215000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:70212200-70216600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr7:70212400-70213600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:70212400-70213600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:70212400-70213600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:70212400-70227600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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