Variant report

Variant	rs554538078
Chromosome Location	chr1:10180853-10180854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10170425..10172938-chr1:10179610..10181170,2	K562	blood:
2	chr1:10179452..10181072-chr1:10181297..10182864,2	K562	blood:

Variant related genes	Relation type
ENSG00000130939	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522629	chr1:10125765-10239197	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv945767	chr1:10180071-10182719	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10145400-10189600	Weak transcription	Psoas Muscle	Psoas
2	chr1:10145800-10197000	Weak transcription	Stomach Mucosa	stomach
3	chr1:10154800-10183000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:10163400-10219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:10164000-10227400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:10166600-10181200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:10167000-10181800	Weak transcription	A549	lung
8	chr1:10167400-10181600	Weak transcription	Fetal Brain Male	brain
9	chr1:10167400-10188400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:10167400-10192600	Weak transcription	Small Intestine	intestine
11	chr1:10167600-10181600	Weak transcription	Right Ventricle	heart
12	chr1:10167600-10190400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:10167600-10207400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:10167800-10184000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr1:10169000-10182400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:10169200-10181600	Weak transcription	HMEC	breast
17	chr1:10169400-10195000	Weak transcription	Aorta	Aorta
18	chr1:10169600-10181600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:10169600-10181800	Weak transcription	Hela-S3	cervix
20	chr1:10169800-10181800	Weak transcription	Fetal Heart	heart
21	chr1:10170200-10187000	Weak transcription	HUVEC	blood vessel
22	chr1:10172000-10188200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:10172800-10182400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:10172800-10182600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:10172800-10183400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr1:10173000-10182600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:10173000-10185200	Strong transcription	Fetal Intestine Large	intestine
28	chr1:10173000-10199400	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr1:10173200-10183200	Strong transcription	Placenta	Placenta
30	chr1:10173200-10185600	Strong transcription	Liver	Liver
31	chr1:10173800-10181600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:10174400-10182600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:10174800-10182800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr1:10174800-10183800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:10175000-10184200	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:10175000-10207200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:10175400-10183200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:10175600-10182400	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:10175600-10183200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:10175600-10183400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:10175600-10184400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr1:10175800-10181600	Weak transcription	Spleen	Spleen
43	chr1:10175800-10182800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr1:10176600-10181600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:10177000-10184600	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:10177200-10183400	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:10177200-10184200	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:10177800-10182200	Strong transcription	Fetal Stomach	stomach
49	chr1:10178200-10187000	Weak transcription	NHDF-Ad	bronchial
50	chr1:10178200-10187800	Weak transcription	HSMMtube	muscle

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