Variant report

Variant	rs555193000
Chromosome Location	chr1:211750711-211750712
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211715152..211718143-chr1:211748506..211750792,2	K562	blood:
2	chr1:211750437..211753125-chr1:211823737..211827672,4	MCF-7	breast:
3	chr1:211749200..211754595-chr1:211816014..211824648,8	K562	blood:
4	chr1:211750433..211752019-chr1:211835257..211837969,2	K562	blood:
5	chr1:211750650..211751428-chr1:211803176..211803710,2	MCF-7	breast:
6	chr1:211429991..211432106-chr1:211750411..211752434,2	MCF-7	breast:
7	chr1:211750060..211753695-chr1:211824093..211827463,4	MCF-7	breast:
8	chr1:211750683..211751727-chr1:211803429..211804168,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000222080	Chromatin interaction
ENSG00000117625	Chromatin interaction
ENSG00000228792	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1796467	chr1:211726975-211769893	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1840920	chr1:211726975-211769893	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1836726	chr1:211736470-211752981	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv549125	chr1:211750362-211753094	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
6	nsv826542	chr1:211750561-211752995	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211745800-211750800	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr1:211747200-211750800	Weak transcription	Spleen	Spleen
3	chr1:211747400-211750800	Weak transcription	Esophagus	oesophagus
4	chr1:211748600-211753200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:211748800-211751000	Active TSS	Right Atrium	heart
6	chr1:211748800-211751400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:211749000-211750800	Active TSS	Fetal Intestine Small	intestine
8	chr1:211749000-211753400	Active TSS	Aorta	Aorta
9	chr1:211749000-211753400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr1:211749200-211750800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:211749400-211750800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr1:211749400-211751400	Active TSS	Stomach Smooth Muscle	stomach
13	chr1:211749400-211753200	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr1:211749400-211753200	Active TSS	Fetal Stomach	stomach
15	chr1:211749400-211753200	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr1:211749400-211753400	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr1:211749600-211750800	Weak transcription	Gastric	stomach
18	chr1:211749600-211750800	Weak transcription	Left Ventricle	heart
19	chr1:211749600-211750800	Weak transcription	Lung	lung
20	chr1:211749600-211750800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:211749600-211750800	Active TSS	HepG2	liver
22	chr1:211749600-211751000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:211749600-211753000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:211749600-211753000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:211749600-211753000	Active TSS	GM12878-XiMat	blood
26	chr1:211749600-211753000	Active TSS	HMEC	breast
27	chr1:211749600-211753000	Active TSS	HSMMtube	muscle
28	chr1:211749600-211753000	Active TSS	NH-A	brain
29	chr1:211749600-211753000	Active TSS	NHLF	lung
30	chr1:211749600-211753200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:211749600-211753200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:211749600-211753200	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr1:211749600-211753200	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr1:211749600-211753200	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr1:211749600-211753200	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr1:211749600-211753200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:211749600-211753200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:211749600-211753200	Active TSS	Duodenum Mucosa	Duodenum
39	chr1:211749600-211753200	Active TSS	Fetal Intestine Large	intestine
40	chr1:211749600-211753200	Active TSS	Fetal Kidney	kidney
41	chr1:211749600-211753200	Active TSS	Rectal Smooth Muscle	rectum
42	chr1:211749600-211753200	Active TSS	A549	lung
43	chr1:211749600-211753200	Active TSS	Hela-S3	cervix
44	chr1:211749600-211753200	Active TSS	K562	blood
45	chr1:211749600-211753200	Active TSS	NHDF-Ad	bronchial
46	chr1:211749600-211753800	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr1:211749800-211751000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr1:211749800-211751000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr1:211749800-211751200	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr1:211749800-211751400	Active TSS	Colonic Mucosa	Colon

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