Variant report

Variant	rs78484497
Chromosome Location	chr1:197108117-197108118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:197106304-197108487	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZBTB41-2	chr1:197107878-197108437	NONHSAT008613

Variant related genes	Relation type
ASPM	TF binding region

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	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
9	nsv946565	chr1:197102791-197108233	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv548871	chr1:197106604-197168233	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv873073	chr1:197107074-197221248	Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197052200-197114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:197054200-197113600	Weak transcription	Fetal Kidney	kidney
3	chr1:197055000-197114200	Weak transcription	Primary B cells from cord blood	blood
4	chr1:197073000-197115000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:197074000-197115000	Weak transcription	Fetal Brain Male	brain
6	chr1:197077000-197114200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:197085800-197109600	Weak transcription	Brain Germinal Matrix	brain
8	chr1:197085800-197111000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:197089800-197108400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:197090000-197110800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:197093800-197108400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:197095800-197114400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:197099200-197109600	Weak transcription	HepG2	liver
14	chr1:197100400-197109000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:197100400-197109600	Weak transcription	NHLF	lung
16	chr1:197100400-197112800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:197100400-197113600	Weak transcription	HSMM	muscle
18	chr1:197100600-197108200	Weak transcription	Fetal Heart	heart
19	chr1:197100600-197111200	Weak transcription	NH-A	brain
20	chr1:197100600-197113000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:197100800-197114200	Weak transcription	Fetal Intestine Large	intestine
22	chr1:197101000-197108800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:197101000-197108800	Weak transcription	HMEC	breast
24	chr1:197101000-197109200	Weak transcription	Osteobl	bone
25	chr1:197101000-197109400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:197101000-197110800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:197101200-197109200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:197101200-197109600	Weak transcription	NHEK	skin
29	chr1:197101200-197113000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:197102600-197113800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr1:197103000-197108200	Weak transcription	NHDF-Ad	bronchial
32	chr1:197103000-197109200	Weak transcription	Fetal Lung	lung
33	chr1:197104600-197109000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:197104600-197113600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:197105200-197108200	Weak transcription	A549	lung
36	chr1:197105200-197108400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:197105200-197109200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:197105400-197113600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr1:197106200-197112600	Strong transcription	Fetal Thymus	thymus
40	chr1:197106200-197113000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:197106400-197109000	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr1:197106400-197113400	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:197106600-197108200	Strong transcription	Fetal Stomach	stomach
44	chr1:197106600-197108600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr1:197106600-197109200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr1:197106600-197109600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:197106600-197109800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:197106600-197109800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:197106600-197113000	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:197106800-197113000	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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