Variant report

Variant	rs143081686
Chromosome Location	chr1:92216861-92216862
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	chr1:92136285..92138892-chr1:92215069..92217009,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription 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	4 gene(s)	inside rSNPs	diseases
8	nsv949449	chr1:92211020-92585831	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv1826229	chr1:92215725-92233227	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv524845	chr1:92215725-92598705	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv462517	chr1:92215725-92598705	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv546810	chr1:92215725-92598705	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1006318	chr1:92216408-92608324	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92197600-92230000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:92198200-92224400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:92199200-92218600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:92199400-92219000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:92201200-92219000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:92201400-92217600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:92204800-92247000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:92208400-92235800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:92209200-92217000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr1:92211800-92235600	Weak transcription	Fetal Kidney	kidney
11	chr1:92212800-92217600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr1:92213000-92218000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr1:92213000-92224000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:92213800-92235000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:92214200-92217600	Enhancers	Ovary	ovary
16	chr1:92214400-92221600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:92214800-92217000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:92214800-92217000	Enhancers	Lung	lung
19	chr1:92214800-92217200	Enhancers	Left Ventricle	heart
20	chr1:92214800-92217800	Enhancers	Brain Substantia Nigra	brain
21	chr1:92214800-92218000	Enhancers	Liver	Liver
22	chr1:92214800-92218000	Enhancers	Brain Anterior Caudate	brain
23	chr1:92214800-92220200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:92215000-92218200	Enhancers	Colon Smooth Muscle	Colon
25	chr1:92215000-92218200	Enhancers	Rectal Smooth Muscle	rectum
26	chr1:92215000-92218400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:92215200-92217600	Enhancers	Brain Cingulate Gyrus	brain
28	chr1:92215200-92217600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr1:92215200-92217800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:92215200-92218000	Enhancers	Adipose Nuclei	Adipose
31	chr1:92215200-92218200	Genic enhancers	HepG2	liver
32	chr1:92215200-92218400	Enhancers	Fetal Muscle Leg	muscle
33	chr1:92215200-92232400	Weak transcription	A549	lung
34	chr1:92215400-92217200	Enhancers	Pancreas	Pancrea
35	chr1:92215400-92217400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:92215400-92217800	Enhancers	Small Intestine	intestine
37	chr1:92215400-92218200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:92215600-92217200	Enhancers	Fetal Thymus	thymus
39	chr1:92215600-92217200	Enhancers	HSMM	muscle
40	chr1:92215600-92217200	Enhancers	Osteobl	bone
41	chr1:92215600-92217600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr1:92215600-92217600	Enhancers	HSMMtube	muscle
43	chr1:92215600-92218200	Enhancers	NHLF	lung
44	chr1:92215600-92219000	Enhancers	NHDF-Ad	bronchial
45	chr1:92215800-92217000	Enhancers	Brain Hippocampus Middle	brain
46	chr1:92215800-92217200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:92215800-92217800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:92215800-92217800	Enhancers	Brain Angular Gyrus	brain
49	chr1:92215800-92218000	Enhancers	Fetal Stomach	stomach
50	chr1:92215800-92218200	Enhancers	Duodenum Smooth Muscle	Duodenum

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