Variant report

Variant	rs551547856
Chromosome Location	chr1:197168533-197168534
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	HCFC1	chr1:197168459-197172025	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197152680..197155309-chr1:197165847..197169413,3	MCF-7	breast:
2	chr1:197153884..197156331-chr1:197167263..197169035,2	K562	blood:

Variant related genes	Relation type
CRB1	TF binding region

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	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
6	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
7	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
8	esv2445525	chr1:197167182-197168584	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197116600-197169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:197125600-197169600	Weak transcription	Esophagus	oesophagus
3	chr1:197126400-197169600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:197152400-197168600	Weak transcription	Stomach Mucosa	stomach
5	chr1:197157400-197169400	Weak transcription	Colonic Mucosa	Colon
6	chr1:197157400-197169600	Weak transcription	Pancreas	Pancrea
7	chr1:197159400-197169600	Weak transcription	Gastric	stomach
8	chr1:197159400-197169800	Weak transcription	Lung	lung
9	chr1:197159600-197168600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:197159600-197169200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:197159600-197169800	Weak transcription	Spleen	Spleen
12	chr1:197159800-197168600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:197159800-197169600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:197160600-197169200	Weak transcription	Fetal Stomach	stomach
15	chr1:197161000-197169200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:197161000-197169400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:197161000-197169400	Weak transcription	Placenta	Placenta
18	chr1:197161200-197168600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:197161600-197168800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:197163400-197169400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:197163600-197168800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:197164000-197168600	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr1:197164000-197168800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr1:197164000-197169200	Active TSS	GM12878-XiMat	blood
25	chr1:197164800-197169400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr1:197165000-197169400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:197165600-197169200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:197166200-197170000	Flanking Active TSS	Dnd41	blood
29	chr1:197166400-197168600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:197166400-197171400	Active TSS	K562	blood
31	chr1:197166400-197171600	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr1:197166400-197171600	Active TSS	Right Atrium	heart
33	chr1:197166600-197171600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:197166800-197168600	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr1:197166800-197168600	Active TSS	NHLF	lung
36	chr1:197166800-197168800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:197166800-197169200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:197166800-197169800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:197166800-197171400	Active TSS	HSMMtube	muscle
40	chr1:197166800-197171600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:197166800-197171800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:197167000-197168600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:197167000-197168800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr1:197167000-197169600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:197167200-197168600	Active TSS	Fetal Brain Male	brain
46	chr1:197167200-197168600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:197167200-197168800	Active TSS	NH-A	brain
48	chr1:197167200-197169000	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr1:197167200-197169600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:197167200-197169600	Weak transcription	Small Intestine	intestine

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