Variant report

Variant	rs12698919
Chromosome Location	chr7:70186521-70186522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10279132	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	esv1834837	chr7:70171159-70202993	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv1839975	chr7:70171159-70202993	Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70161800-70191200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:70162200-70201600	Weak transcription	Primary B cells from cord blood	blood
3	chr7:70176200-70201600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:70176400-70189800	Weak transcription	Fetal Intestine Large	intestine
5	chr7:70176400-70192000	Weak transcription	HMEC	breast
6	chr7:70176400-70193800	Weak transcription	NH-A	brain
7	chr7:70179800-70190200	Weak transcription	Brain Angular Gyrus	brain
8	chr7:70179800-70192000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:70179800-70201600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:70180000-70188200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:70180000-70192200	Weak transcription	Aorta	Aorta
12	chr7:70180200-70190400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:70180200-70193800	Weak transcription	Fetal Intestine Small	intestine
14	chr7:70182600-70190400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:70182600-70194000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:70183000-70186600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:70183000-70194000	Weak transcription	Fetal Stomach	stomach
18	chr7:70183000-70201600	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:70183200-70188400	Weak transcription	Lung	lung
20	chr7:70183200-70190000	Weak transcription	Brain Substantia Nigra	brain
21	chr7:70183200-70190200	Weak transcription	Esophagus	oesophagus
22	chr7:70183200-70191800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:70183200-70193800	Weak transcription	Thymus	Thymus
24	chr7:70183200-70194000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:70183200-70200200	Weak transcription	Ovary	ovary
26	chr7:70183200-70201800	Weak transcription	Pancreas	Pancrea
27	chr7:70183400-70186600	Weak transcription	Right Atrium	heart
28	chr7:70183400-70188200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:70183400-70193800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr7:70183400-70194000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:70183400-70195400	Weak transcription	HSMM	muscle
32	chr7:70183600-70197600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:70184200-70190200	Weak transcription	Gastric	stomach
34	chr7:70184400-70189600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:70184400-70195200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:70184600-70193000	Enhancers	Liver	Liver
37	chr7:70185200-70186800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr7:70185600-70190200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:70185800-70186600	Weak transcription	Fetal Brain Female	brain
40	chr7:70185800-70186800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:70185800-70187200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:70185800-70187400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:70185800-70187800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:70185800-70187800	Weak transcription	NHEK	skin
45	chr7:70185800-70188000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:70185800-70188000	Weak transcription	Brain Anterior Caudate	brain
47	chr7:70185800-70188200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:70185800-70189600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:70185800-70189800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr7:70185800-70190200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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