Variant report

Variant	rs35996491
Chromosome Location	chr7:70061436-70061437
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12698911	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236715	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239236	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17141812	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859530	0.96[EUR][1000 genomes]
rs34164699	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34248312	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34389950	0.96[EUR][1000 genomes]
rs34520347	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34590184	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34793297	0.93[AMR][1000 genomes]
rs34852970	0.96[EUR][1000 genomes]
rs34873775	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34986615	0.96[EUR][1000 genomes]
rs35271487	0.89[EUR][1000 genomes]
rs35307540	0.96[EUR][1000 genomes]
rs35771254	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35814828	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35854332	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35861509	0.96[EUR][1000 genomes]
rs35885390	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv522876	chr7:70050442-70071979	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70060200-70062000	Bivalent Enhancer	Placenta	Placenta
2	chr7:70060200-70062600	Bivalent/Poised TSS	Fetal Brain Female	brain
3	chr7:70060400-70064600	Active TSS	Brain Anterior Caudate	brain
4	chr7:70060600-70061600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:70060600-70061600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr7:70060600-70061600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:70060600-70061600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:70060600-70061600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:70060600-70061600	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr7:70060600-70061800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:70060600-70061800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr7:70060600-70061800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:70060600-70061800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:70060600-70061800	Bivalent Enhancer	Fetal Lung	lung
15	chr7:70060600-70061800	Bivalent/Poised TSS	NH-A	brain
16	chr7:70060600-70062000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
17	chr7:70060600-70062200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr7:70060600-70062400	Bivalent Enhancer	Fetal Brain Male	brain
19	chr7:70060600-70062400	Active TSS	Rectal Smooth Muscle	rectum
20	chr7:70060800-70061600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:70060800-70061600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:70060800-70061600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr7:70060800-70061600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:70060800-70061600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:70060800-70061600	Active TSS	Brain Angular Gyrus	brain
26	chr7:70060800-70061600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
27	chr7:70060800-70061600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
28	chr7:70060800-70061600	Active TSS	Right Atrium	heart
29	chr7:70060800-70061600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
30	chr7:70060800-70061600	Active TSS	Stomach Smooth Muscle	stomach
31	chr7:70060800-70061800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr7:70060800-70061800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr7:70060800-70061800	Active TSS	Aorta	Aorta
34	chr7:70060800-70061800	Active TSS	Brain Hippocampus Middle	brain
35	chr7:70060800-70061800	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr7:70060800-70061800	Active TSS	Gastric	stomach
37	chr7:70060800-70061800	Bivalent Enhancer	Stomach Mucosa	stomach
38	chr7:70060800-70062000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
39	chr7:70060800-70062200	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr7:70060800-70063200	Active TSS	Esophagus	oesophagus
41	chr7:70061000-70061600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
42	chr7:70061000-70061600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:70061000-70061600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr7:70061000-70061600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:70061000-70061600	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr7:70061000-70061600	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:70061000-70061600	Bivalent Enhancer	Primary B cells from cord blood	blood
48	chr7:70061000-70061600	Active TSS	Liver	Liver
49	chr7:70061000-70061600	Active TSS	Left Ventricle	heart
50	chr7:70061000-70061600	Bivalent/Poised TSS	Osteobl	bone

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