Variant report

Variant	rs2297654
Chromosome Location	chr1:46086436-46086437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46049177..46050779-chr1:46084845..46087660,2	K562	blood:
2	chr1:46076715..46080031-chr1:46084203..46087065,4	K562	blood:
3	chr1:45965206..45967382-chr1:46084831..46087421,2	K562	blood:
4	chr1:46085809..46088151-chr1:46093251..46095018,2	MCF-7	breast:
5	chr1:46085998..46087880-chr1:46092475..46094068,2	K562	blood:
6	chr1:46049177..46052526-chr1:46084544..46088171,4	K562	blood:

Variant related genes	Relation type
ENSG00000132763	Chromatin interaction
ENSG00000236624	Chromatin interaction
ENSG00000132780	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs28545579	0.87[AMR][1000 genomes]
rs28675671	0.93[AMR][1000 genomes]

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	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
3	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
4	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
5	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
6	nsv1011587	chr1:46051672-46244492	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
7	nsv822509	chr1:46084979-46089642	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 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	chr1:46052800-46089200	Strong transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:46052800-46099400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:46053200-46127400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:46055200-46090400	Strong transcription	Dnd41	blood
5	chr1:46066800-46086800	Strong transcription	K562	blood
6	chr1:46067200-46086600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:46067200-46087400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:46067400-46086600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:46068000-46086600	Strong transcription	Placenta	Placenta
10	chr1:46068200-46086600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr1:46068200-46087000	Strong transcription	Fetal Muscle Trunk	muscle
12	chr1:46068200-46087400	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr1:46068200-46087400	Strong transcription	Fetal Thymus	thymus
14	chr1:46070000-46108200	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:46071000-46087400	Strong transcription	Fetal Stomach	stomach
16	chr1:46071200-46093000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:46071600-46087200	Strong transcription	Fetal Muscle Leg	muscle
18	chr1:46071600-46105800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:46074600-46087400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr1:46074800-46108200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:46075400-46087400	Strong transcription	Primary hematopoietic stem cells	blood
22	chr1:46075600-46088000	Weak transcription	Fetal Heart	heart
23	chr1:46075600-46088000	Strong transcription	Fetal Intestine Small	intestine
24	chr1:46075800-46087200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:46076200-46094000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:46077800-46086600	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr1:46077800-46088200	Strong transcription	Primary T cells from cord blood	blood
28	chr1:46077800-46090000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:46077800-46090200	Strong transcription	Fetal Brain Female	brain
30	chr1:46077800-46112600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr1:46078000-46087600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr1:46078200-46086600	Strong transcription	Liver	Liver
33	chr1:46078200-46086800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:46078200-46090000	Strong transcription	Brain Germinal Matrix	brain
35	chr1:46078200-46101200	Strong transcription	Thymus	Thymus
36	chr1:46078400-46086800	Strong transcription	Brain Cingulate Gyrus	brain
37	chr1:46078400-46087200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:46078400-46100800	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:46078600-46086600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:46078800-46087400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:46078800-46101000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:46079000-46100600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:46079200-46086800	Strong transcription	Brain Hippocampus Middle	brain
44	chr1:46079200-46087200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:46079600-46094600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr1:46079800-46086800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:46079800-46109800	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:46080000-46086600	Strong transcription	NHEK	skin
49	chr1:46080200-46088000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:46080600-46086600	Strong transcription	Right Ventricle	heart

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