Variant report

Variant	rs2816325
Chromosome Location	chr1:226181427-226181428
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226179972..226182503-chr1:226307578..226310894,3	K562	blood:
2	chr1:226069274..226070953-chr1:226180854..226183828,2	K562	blood:
3	chr1:226177173..226181530-chr1:226249204..226252520,5	MCF-7	breast:
4	chr1:226178645..226182861-chr1:226185061..226188783,6	MCF-7	breast:
5	chr1:226178791..226193771-chr1:226246813..226256535,111	K562	blood:
6	chr1:226178945..226182986-chr1:226250687..226254732,6	K562	blood:
7	chr1:226180666..226183104-chr1:226186233..226187870,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196187	Chromatin interaction
ENSG00000143751	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000272562	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs61459154	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226129600-226185600	Weak transcription	Right Atrium	heart
2	chr1:226164600-226182800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:226164600-226183000	Strong transcription	Placenta	Placenta
4	chr1:226165000-226183600	Strong transcription	Adipose Nuclei	Adipose
5	chr1:226165000-226186000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:226165200-226183200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:226165200-226183400	Strong transcription	Osteobl	bone
8	chr1:226165400-226182400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:226165400-226183000	Strong transcription	Liver	Liver
10	chr1:226165400-226183000	Strong transcription	Left Ventricle	heart
11	chr1:226165400-226183400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:226165400-226183400	Strong transcription	Stomach Smooth Muscle	stomach
13	chr1:226165400-226183800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:226165600-226184400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:226167000-226185000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:226167400-226182400	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:226167400-226183600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:226167600-226183000	Strong transcription	NH-A	brain
19	chr1:226167600-226183200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:226167800-226183200	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:226168600-226183200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr1:226169200-226183600	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:226169800-226183200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:226169800-226183600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:226169800-226183600	Weak transcription	Stomach Mucosa	stomach
26	chr1:226170000-226183000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:226170000-226183600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:226170000-226183800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:226170000-226185800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:226170200-226183200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:226170200-226183200	Strong transcription	Fetal Muscle Trunk	muscle
32	chr1:226170200-226184400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:226170200-226186200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:226170400-226183000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr1:226170400-226184000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr1:226170600-226183600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:226170800-226182800	Strong transcription	Fetal Stomach	stomach
38	chr1:226171000-226183400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:226171000-226183800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr1:226171200-226182800	Strong transcription	Fetal Muscle Leg	muscle
41	chr1:226171400-226184600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:226171600-226182200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:226171600-226183600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:226171600-226184000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:226171600-226185800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:226172200-226183400	Strong transcription	A549	lung
47	chr1:226173000-226183800	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr1:226175400-226182800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:226175400-226182800	Strong transcription	Colon Smooth Muscle	Colon
50	chr1:226175600-226181600	Strong transcription	Fetal Brain Female	brain

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