Variant report

Variant	rs558618446
Chromosome Location	chr1:197080670-197080671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats 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	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv873069	chr1:197055925-197109042	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv873070	chr1:197079671-197165014	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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
7	nsv873071	chr1:197079671-197187605	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197052200-197083600	Weak transcription	Fetal Stomach	stomach
2	chr1:197052200-197106600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:197052200-197114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:197054200-197113600	Weak transcription	Fetal Kidney	kidney
5	chr1:197055000-197114200	Weak transcription	Primary B cells from cord blood	blood
6	chr1:197066600-197083600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:197067000-197092200	Weak transcription	Fetal Intestine Large	intestine
8	chr1:197070600-197100000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:197070800-197085400	Weak transcription	Osteobl	bone
10	chr1:197071000-197084400	Weak transcription	Fetal Heart	heart
11	chr1:197071000-197105400	Strong transcription	Dnd41	blood
12	chr1:197071400-197095800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:197071800-197104600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:197072600-197087400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:197072600-197104600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:197072600-197107400	Weak transcription	Fetal Intestine Small	intestine
17	chr1:197073000-197104000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:197073000-197115000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:197073600-197098400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:197073800-197083400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:197073800-197085200	Weak transcription	GM12878-XiMat	blood
22	chr1:197073800-197091400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:197074000-197085400	Weak transcription	HepG2	liver
24	chr1:197074000-197115000	Weak transcription	Fetal Brain Male	brain
25	chr1:197074200-197085000	Weak transcription	NHDF-Ad	bronchial
26	chr1:197074200-197091400	Weak transcription	NHEK	skin
27	chr1:197074200-197102000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:197074800-197082200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:197076200-197094000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:197076400-197081200	Weak transcription	Thymus	Thymus
31	chr1:197076400-197085200	Weak transcription	NH-A	brain
32	chr1:197076400-197096400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:197076600-197081600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:197076600-197084200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:197076600-197085200	Weak transcription	HMEC	breast
36	chr1:197076800-197081800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:197077000-197085400	Weak transcription	K562	blood
38	chr1:197077000-197114200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:197077200-197082000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:197077200-197083400	Weak transcription	Fetal Muscle Leg	muscle
41	chr1:197077200-197083800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:197077200-197090800	Weak transcription	NHLF	lung
43	chr1:197077400-197083000	Weak transcription	Fetal Lung	lung
44	chr1:197077600-197083600	Weak transcription	HUVEC	blood vessel
45	chr1:197077800-197083600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:197077800-197083600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:197077800-197084400	Weak transcription	HSMM	muscle
48	chr1:197077800-197084800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:197078000-197081200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:197078000-197081600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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