Variant report

Variant	rs560757816
Chromosome Location	chr1:85154961-85154962
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84969596..84972494-chr1:85154864..85156849,3	K562	blood:
2	chr1:85153044..85155913-chr1:85168206..85170903,2	K562	blood:
3	chr1:85038587..85040484-chr1:85154316..85157145,3	K562	blood:
4	chr1:84970994..84973830-chr1:85154472..85157447,5	K562	blood:
5	chr1:85152648..85155097-chr1:85155098..85157489,2	MCF-7	breast:
6	chr1:85150908..85155231-chr1:85184814..85188587,5	K562	blood:
7	chr1:84542242..84543745-chr1:85154770..85157524,2	K562	blood:

Variant related genes	Relation type
ENSG00000174021	Chromatin interaction
ENSG00000271576	Chromatin interaction
ENSG00000117155	Chromatin interaction
ENSG00000122432	Chromatin interaction
ENSG00000117151	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv947283	chr1:85150944-85155058	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	esv3349532	chr1:85154814-85157812	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85106400-85155400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:85108000-85155000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:85126400-85155200	Weak transcription	Left Ventricle	heart
4	chr1:85138800-85155000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:85152000-85155000	Active TSS	Brain Angular Gyrus	brain
6	chr1:85152600-85156800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:85152800-85155200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr1:85153000-85155000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr1:85153200-85155000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr1:85153200-85155200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr1:85153400-85155000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:85153600-85155000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:85153600-85155000	Enhancers	Fetal Heart	heart
14	chr1:85153600-85155200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:85153600-85157000	Active TSS	K562	blood
16	chr1:85153600-85157400	Active TSS	Stomach Smooth Muscle	stomach
17	chr1:85154000-85155000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:85154000-85155000	Enhancers	HSMM	muscle
19	chr1:85154000-85155200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:85154000-85155600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr1:85154000-85156800	Active TSS	GM12878-XiMat	blood
22	chr1:85154200-85155000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:85154200-85155000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr1:85154200-85155200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr1:85154200-85155200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr1:85154200-85155400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr1:85154200-85155400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:85154200-85155400	Flanking Active TSS	Thymus	Thymus
29	chr1:85154200-85155400	Flanking Active TSS	NHEK	skin
30	chr1:85154200-85155600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:85154400-85155000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:85154400-85155000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:85154400-85155000	Enhancers	Primary hematopoietic stem cells	blood
34	chr1:85154400-85155000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:85154400-85155000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:85154400-85155000	Enhancers	Brain Germinal Matrix	brain
37	chr1:85154400-85155000	Enhancers	Brain Substantia Nigra	brain
38	chr1:85154400-85155000	Enhancers	Fetal Stomach	stomach
39	chr1:85154400-85155000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr1:85154400-85155000	Enhancers	Stomach Mucosa	stomach
41	chr1:85154400-85155200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:85154400-85155200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:85154400-85155200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:85154400-85155200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr1:85154400-85155200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:85154400-85155200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:85154400-85155200	Flanking Active TSS	Hela-S3	cervix
48	chr1:85154400-85155400	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr1:85154400-85155400	Flanking Active TSS	Fetal Kidney	kidney
50	chr1:85154400-85155400	Weak transcription	Small Intestine	intestine

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