Variant report

Variant	rs550815436
Chromosome Location	chr1:61710299-61710300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61709999..61711668-chr1:61722903..61725455,2	K562	blood:
2	chr1:61705176..61707440-chr1:61708242..61713126,6	K562	blood:
3	chr1:61687117..61688751-chr1:61709557..61711525,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	esv1849929	chr1:61684084-61714142	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers 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 miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1001052	chr1:61702011-62090670	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	esv3320054	chr1:61710132-61710664	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3320055	chr1:61710201-61710603	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3320056	chr1:61710286-61710518	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61680000-61720200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:61703600-61713600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:61704600-61713400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:61704600-61713600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:61705400-61715200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:61706600-61710400	Enhancers	Liver	Liver
7	chr1:61706800-61710400	Enhancers	HepG2	liver
8	chr1:61707200-61713400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:61707400-61718800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:61707400-61718800	Weak transcription	Gastric	stomach
11	chr1:61707600-61719000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:61707800-61710400	Enhancers	Brain Anterior Caudate	brain
13	chr1:61707800-61710400	Enhancers	Fetal Brain Male	brain
14	chr1:61707800-61718600	Weak transcription	Stomach Mucosa	stomach
15	chr1:61708000-61710400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:61708000-61710400	Enhancers	Rectal Smooth Muscle	rectum
17	chr1:61708000-61710800	Enhancers	Fetal Lung	lung
18	chr1:61708000-61712200	Enhancers	Colon Smooth Muscle	Colon
19	chr1:61708000-61712800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:61708000-61713600	Weak transcription	A549	lung
21	chr1:61708000-61718800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:61708000-61720400	Weak transcription	Colonic Mucosa	Colon
23	chr1:61708200-61710600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:61709000-61710800	Weak transcription	Brain Germinal Matrix	brain
25	chr1:61709400-61710400	Enhancers	Fetal Stomach	stomach
26	chr1:61709400-61710400	Enhancers	HUVEC	blood vessel
27	chr1:61709400-61710600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:61709400-61710600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:61709400-61710600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr1:61709600-61710400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:61709600-61710800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:61709600-61710800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:61709600-61711200	Enhancers	Brain Hippocampus Middle	brain
34	chr1:61709600-61719000	Weak transcription	Lung	lung
35	chr1:61709800-61710400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:61709800-61710400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr1:61709800-61710400	Enhancers	Fetal Brain Female	brain
38	chr1:61709800-61710400	Enhancers	NHEK	skin
39	chr1:61709800-61710600	Enhancers	Adipose Nuclei	Adipose
40	chr1:61709800-61710600	Enhancers	Stomach Smooth Muscle	stomach
41	chr1:61709800-61710600	Enhancers	HMEC	breast
42	chr1:61709800-61710800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr1:61709800-61710800	Enhancers	Brain Substantia Nigra	brain
44	chr1:61710000-61710400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:61710000-61710400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr1:61710000-61710600	Enhancers	Brain Cingulate Gyrus	brain
47	chr1:61710200-61712400	Weak transcription	K562	blood
48	chr1:61710200-61712800	Weak transcription	Ovary	ovary
49	chr1:61710200-61713000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:61710200-61713000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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