Variant report

Variant	rs562369776
Chromosome Location	chr1:77332905-77332906
allele	A/C
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	YY1	chr1:77332796-77334723	SK-N-SH	brain:	n/a	chr1:77333104-77333118 chr1:77333963-77333972 chr1:77333966-77333975 chr1:77333069-77333078 chr1:77333114-77333125
2	FOSL1	chr1:77332841-77333259	H1-hESC	embryonic stem cell:	n/a	n/a
3	MXI1	chr1:77332726-77336116	SK-N-SH	brain:	n/a	chr1:77333937-77333946
4	CTCF	chr1:77332900-77333190	HCM	heart:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
5	TCF12	chr1:77332779-77334595	SK-N-SH	brain:	n/a	chr1:77333937-77333947
6	REST	chr1:77332805-77334598	H1-neurons	neurons:	n/a	chr1:77333889-77333902 chr1:77333900-77333913 chr1:77334116-77334129 chr1:77333443-77333452
7	CTCF	chr1:77332820-77335195	SK-N-SH	brain:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
8	PBX3	chr1:77332886-77333352	SK-N-SH	brain:	n/a	n/a
9	MAX	chr1:77332897-77333342	SK-N-SH	brain:	n/a	chr1:77332913-77332929
10	FOSL1	chr1:77332903-77333274	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:77332896-77333739	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77326930..77328743-chr1:77330284..77333050,4	K562	blood:

Variant related genes	Relation type
ST6GALNAC5	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003826	chr1:76965331-77656929	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535006	chr1:76965331-77656929	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1005649	chr1:77141039-77398747	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1003386	chr1:77305197-77375536	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv820187	chr1:77331722-77334433	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77319800-77333200	Weak transcription	Gastric	stomach
2	chr1:77320400-77333000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:77331800-77333200	Active TSS	Stomach Smooth Muscle	stomach
4	chr1:77332200-77333000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:77332200-77335800	Active TSS	Brain Anterior Caudate	brain
6	chr1:77332600-77334400	Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr1:77332800-77333000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:77332800-77333000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
9	chr1:77332800-77333000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
10	chr1:77332800-77333000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr1:77332800-77333000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr1:77332800-77333000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:77332800-77333000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:77332800-77333000	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:77332800-77333000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
16	chr1:77332800-77333000	Bivalent Enhancer	Primary T cells from cord blood	blood
17	chr1:77332800-77333000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
18	chr1:77332800-77333000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
19	chr1:77332800-77333000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:77332800-77333000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:77332800-77333000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr1:77332800-77333000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:77332800-77333000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:77332800-77333000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:77332800-77333000	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr1:77332800-77333000	Flanking Active TSS	Fetal Brain Male	brain
27	chr1:77332800-77333000	Flanking Active TSS	Fetal Brain Female	brain
28	chr1:77332800-77333000	Flanking Active TSS	Fetal Kidney	kidney
29	chr1:77332800-77333000	Bivalent Enhancer	Fetal Lung	lung
30	chr1:77332800-77333000	Active TSS	Fetal Muscle Trunk	muscle
31	chr1:77332800-77333000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr1:77332800-77333000	Enhancers	HSMM	muscle
33	chr1:77332800-77333000	Flanking Active TSS	HSMMtube	muscle
34	chr1:77332800-77333000	Flanking Active TSS	NH-A	brain
35	chr1:77332800-77333200	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr1:77332800-77333200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:77332800-77333200	Active TSS	Brain Hippocampus Middle	brain
38	chr1:77332800-77333200	Active TSS	Fetal Stomach	stomach
39	chr1:77332800-77333200	Bivalent/Poised TSS	HUVEC	blood vessel
40	chr1:77332800-77333400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
41	chr1:77332800-77334000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:77332800-77334200	Active TSS	Right Atrium	heart
43	chr1:77332800-77334400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:77332800-77334400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:77332800-77334400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:77332800-77334400	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr1:77332800-77334600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
48	chr1:77332800-77334600	Active TSS	NHDF-Ad	bronchial
49	chr1:77332800-77334600	Bivalent/Poised TSS	NHLF	lung
50	chr1:77332800-77334800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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