Variant report

Variant	rs535498791
Chromosome Location	chr1:213132268-213132269
allele	A/G
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	chr1:213132256-213134281	GM12892	blood:	n/a	n/a
2	POLR2A	chr1:213132167-213133904	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:213127202..213129591-chr1:213131577..213134286,2	K562	blood:
2	chr1:213127616..213130170-chr1:213132059..213134364,2	K562	blood:
3	chr1:213123028..213126732-chr1:213127921..213134327,6	K562	blood:

Variant related genes	Relation type
VASH2	TF binding region
ENSG00000143494	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv11434	chr1:213131581-213156027	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213125200-213132800	Weak transcription	Lung	lung
2	chr1:213125200-213134200	Weak transcription	Right Atrium	heart
3	chr1:213125600-213132600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:213125600-213141000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:213125800-213141000	Weak transcription	A549	lung
6	chr1:213125800-213145800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:213126000-213134000	Weak transcription	Fetal Intestine Small	intestine
8	chr1:213126400-213152400	Strong transcription	Fetal Stomach	stomach
9	chr1:213126600-213140600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:213126800-213154400	Strong transcription	Fetal Brain Female	brain
11	chr1:213127000-213136400	Weak transcription	Fetal Brain Male	brain
12	chr1:213127000-213153200	Strong transcription	Fetal Lung	lung
13	chr1:213127200-213132600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:213127400-213140800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:213128400-213140800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:213128800-213133000	Weak transcription	Fetal Intestine Large	intestine
17	chr1:213129000-213141600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:213129400-213134200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:213129600-213139800	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr1:213130000-213153800	Weak transcription	Thymus	Thymus
21	chr1:213130200-213133800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
22	chr1:213130600-213135600	Strong transcription	Brain Germinal Matrix	brain
23	chr1:213130800-213133600	Genic enhancers	Fetal Muscle Leg	muscle
24	chr1:213131000-213132400	Enhancers	HSMM	muscle
25	chr1:213131000-213133400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:213131000-213133800	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr1:213131200-213133000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:213131200-213133000	Enhancers	Primary hematopoietic stem cells	blood
29	chr1:213131200-213133000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr1:213131200-213138000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:213131400-213133000	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr1:213131400-213133400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:213131400-213139600	Weak transcription	Fetal Kidney	kidney
34	chr1:213131400-213153000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:213131600-213138600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:213131600-213139200	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:213131600-213141000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:213131800-213132400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:213131800-213132400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:213131800-213132600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:213131800-213139000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:213131800-213139200	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr1:213131800-213140000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:213132000-213132400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:213132000-213139200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:213132000-213140400	Weak transcription	Fetal Thymus	thymus
47	chr1:213132000-213141400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:213132200-213132400	Weak transcription	HSMMtube	muscle

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