Variant report

Variant	rs567139448
Chromosome Location	chr1:9846701-9846702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv2298	chr1:9826286-9857487	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	esv1848817	chr1:9842576-9855529	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1821566	chr1:9842576-9856687	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv827475	chr1:9846555-9855119	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv827586	chr1:9846555-9857371	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv498662	chr1:9846650-9856696	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9801400-9854200	Weak transcription	Fetal Kidney	kidney
2	chr1:9811800-9857000	Weak transcription	Aorta	Aorta
3	chr1:9813800-9852200	Weak transcription	Right Atrium	heart
4	chr1:9824200-9846800	Weak transcription	Spleen	Spleen
5	chr1:9827400-9852200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:9833000-9848200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:9833400-9846800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:9833400-9846800	Weak transcription	Primary T cells from cord blood	blood
9	chr1:9833400-9846800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:9833400-9846800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:9833400-9846800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:9833400-9846800	Weak transcription	Esophagus	oesophagus
13	chr1:9833400-9846800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:9833400-9847000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:9833400-9848000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:9833400-9849200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:9833400-9851400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:9833400-9852200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:9833400-9852200	Weak transcription	Brain Angular Gyrus	brain
20	chr1:9833400-9852200	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:9833400-9852200	Weak transcription	Fetal Lung	lung
22	chr1:9833400-9852200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:9833400-9852400	Weak transcription	HSMMtube	muscle
24	chr1:9833400-9852600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:9833400-9854000	Weak transcription	Fetal Intestine Large	intestine
26	chr1:9833600-9846800	Weak transcription	Left Ventricle	heart
27	chr1:9833600-9847000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:9833600-9851400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:9833600-9851600	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:9833600-9852200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:9833600-9852200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:9833600-9852400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:9833600-9853400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:9833800-9847000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:9833800-9848800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:9833800-9849200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:9833800-9853400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:9834000-9846800	Weak transcription	Dnd41	blood
39	chr1:9834000-9852400	Weak transcription	Brain Germinal Matrix	brain
40	chr1:9836000-9849000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:9836800-9849000	Weak transcription	Fetal Stomach	stomach
42	chr1:9836800-9852000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:9836800-9852200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:9836800-9852400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:9838000-9854400	Weak transcription	Lung	lung
46	chr1:9839400-9846800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:9839800-9853400	Weak transcription	Fetal Intestine Small	intestine
48	chr1:9841000-9852200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:9841000-9852200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr1:9841000-9852400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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