Variant report

Variant	rs549706716
Chromosome Location	chr1:161696466-161696467
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161695790..161697784-chr8:91655626..91657821,2	MCF-7	breast:
2	chr1:161696233..161698594-chr1:161718488..161721013,2	MCF-7	breast:
3	chr1:161657417..161659539-chr1:161696325..161698709,3	K562	blood:
4	chr1:161474965..161476524-chr1:161694397..161697249,2	K562	blood:
5	chr1:161648385..161650314-chr1:161696093..161698220,2	K562	blood:
6	chr1:161654373..161658306-chr1:161696464..161699587,3	MCF-7	breast:
7	chr1:161694367..161698874-chr1:161718174..161721030,6	MCF-7	breast:
8	chr1:161695918..161698329-chr1:161735226..161737077,2	MCF-7	breast:
9	chr1:161683127..161685809-chr1:161696033..161698160,3	MCF-7	breast:
10	chr1:161535342..161537175-chr1:161695826..161698506,2	MCF-7	breast:
11	chr1:161640986..161643411-chr1:161696404..161699095,2	MCF-7	breast:
12	chr1:161474965..161477021-chr1:161694558..161697249,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143226	Chromatin interaction
ENSG00000081721	Chromatin interaction
ENSG00000180694	Chromatin interaction
ENSG00000213075	Chromatin interaction
ENSG00000226889	Chromatin interaction
ENSG00000118217	Chromatin interaction

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	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv516773	chr1:161691433-161702763	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
6	nsv464195	chr1:161693003-161702792	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
7	nsv548076	chr1:161693003-161702792	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
8	esv3343743	chr1:161695553-161698101	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161695400-161696600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr1:161695400-161696600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
3	chr1:161695400-161696600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
4	chr1:161695400-161696800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
5	chr1:161695400-161696800	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr1:161695400-161697200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:161695400-161697400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
8	chr1:161695400-161697600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:161695400-161697600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:161695400-161697600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr1:161695400-161697600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:161695400-161697600	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr1:161695400-161697600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:161695400-161697600	Active TSS	Brain Substantia Nigra	brain
15	chr1:161695400-161697600	Active TSS	Fetal Kidney	kidney
16	chr1:161695400-161697800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr1:161695400-161697800	Active TSS	Brain Angular Gyrus	brain
18	chr1:161695400-161697800	Active TSS	Ovary	ovary
19	chr1:161695400-161698000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr1:161695400-161698200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr1:161695600-161696800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
22	chr1:161695600-161696800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
23	chr1:161695600-161697200	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr1:161695600-161697200	Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr1:161695600-161697200	Active TSS	Osteobl	bone
26	chr1:161695600-161697400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
27	chr1:161695600-161697600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:161695600-161697600	Active TSS	Aorta	Aorta
29	chr1:161695600-161697600	Active TSS	Brain Hippocampus Middle	brain
30	chr1:161695600-161697600	Active TSS	Colon Smooth Muscle	Colon
31	chr1:161695600-161697600	Active TSS	Psoas Muscle	Psoas
32	chr1:161695600-161697600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
33	chr1:161695600-161697800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:161695600-161697800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr1:161695600-161697800	Active TSS	Brain Anterior Caudate	brain
36	chr1:161695800-161696600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:161695800-161696800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
38	chr1:161695800-161697200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:161695800-161697200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr1:161695800-161697200	Active TSS	HSMMtube	muscle
41	chr1:161695800-161697400	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr1:161695800-161697400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:161695800-161697400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:161695800-161697400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
45	chr1:161695800-161697400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:161695800-161697400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
47	chr1:161695800-161697400	Active TSS	Left Ventricle	heart
48	chr1:161695800-161697400	Active TSS	Right Ventricle	heart
49	chr1:161695800-161697400	Active TSS	Small Intestine	intestine
50	chr1:161695800-161697400	Active TSS	GM12878-XiMat	blood

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