Variant report

Variant	rs556577247
Chromosome Location	chr1:226321888-226321889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226186376..226188653-chr1:226320391..226323133,2	K562	blood:
2	chr1:226321369..226323954-chr1:226327416..226330476,3	K562	blood:
3	chr1:226248687..226250856-chr1:226319556..226322520,2	MCF-7	breast:
4	chr1:226319376..226322100-chr1:226332829..226335844,3	MCF-7	breast:
5	chr1:226309744..226312243-chr1:226321771..226324398,3	K562	blood:
6	chr1:226308628..226313084-chr1:226318396..226322185,6	MCF-7	breast:
7	chr1:226321090..226323803-chr1:226336056..226338005,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143751	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000234478	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv1792510	chr1:226277560-226323824	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	esv3486820	chr1:226321832-226322157	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
6	esv3486821	chr1:226321832-226322157	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
7	esv3375712	chr1:226321863-226322037	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226310400-226333800	Weak transcription	Small Intestine	intestine
2	chr1:226310600-226322400	Weak transcription	Right Atrium	heart
3	chr1:226310800-226331200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:226313000-226323200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:226313400-226322000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:226313400-226322600	Weak transcription	Brain Angular Gyrus	brain
7	chr1:226315600-226322600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:226316000-226322000	Enhancers	Primary B cells from cord blood	blood
9	chr1:226316000-226324000	Enhancers	Primary B cells from peripheral blood	blood
10	chr1:226316600-226322600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:226316800-226323000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:226317000-226322200	Weak transcription	Fetal Heart	heart
13	chr1:226317200-226331200	Weak transcription	Placenta	Placenta
14	chr1:226318600-226331600	Weak transcription	NH-A	brain
15	chr1:226319400-226324200	Enhancers	Gastric	stomach
16	chr1:226319600-226331200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:226320000-226322400	Enhancers	Duodenum Mucosa	Duodenum
18	chr1:226320000-226322600	Weak transcription	Right Ventricle	heart
19	chr1:226320000-226324000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr1:226320000-226324400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:226320400-226322600	Enhancers	Pancreas	Pancrea
22	chr1:226320400-226323200	Enhancers	NHEK	skin
23	chr1:226320600-226322200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:226320600-226323800	Enhancers	Fetal Intestine Large	intestine
25	chr1:226320800-226322000	Flanking Active TSS	Stomach Mucosa	stomach
26	chr1:226320800-226322600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:226320800-226322600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:226320800-226334000	Weak transcription	K562	blood
29	chr1:226321000-226322200	Enhancers	Colonic Mucosa	Colon
30	chr1:226321000-226322200	Enhancers	Stomach Smooth Muscle	stomach
31	chr1:226321000-226322400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr1:226321000-226322800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:226321000-226322800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:226321000-226323000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:226321000-226331000	Weak transcription	HSMM	muscle
36	chr1:226321200-226322400	Weak transcription	Spleen	Spleen
37	chr1:226321200-226323600	Enhancers	Fetal Intestine Small	intestine
38	chr1:226321200-226323600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr1:226321200-226331800	Weak transcription	HSMMtube	muscle
40	chr1:226321400-226322000	Bivalent Enhancer	Fetal Stomach	stomach
41	chr1:226321400-226322000	Weak transcription	Lung	lung
42	chr1:226321400-226322400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:226321400-226322400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:226321400-226322600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:226321400-226322800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:226321400-226323200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:226321400-226323600	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr1:226321400-226331600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:226321400-226331600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:226321400-226331800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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