Variant report

Variant	rs2812001
Chromosome Location	chr1:84641304-84641305
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84633326..84635826-chr1:84640053..84642677,3	K562	blood:
2	chr1:84633326..84636042-chr1:84640053..84642677,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1016379	0.92[EUR][1000 genomes]
rs12027198	0.84[EUR][1000 genomes]
rs12031206	0.93[EUR][1000 genomes]
rs12031621	0.84[EUR][1000 genomes]
rs12035258	0.93[EUR][1000 genomes]
rs12036564	0.82[EUR][1000 genomes]
rs12039822	0.83[EUR][1000 genomes]
rs2139931	0.92[EUR][1000 genomes]
rs2221360	0.86[EUR][1000 genomes]
rs2642181	0.92[EUR][1000 genomes]
rs2642182	0.98[EUR][1000 genomes]
rs2642183	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2642184	0.92[EUR][1000 genomes]
rs2642185	0.85[EUR][1000 genomes]
rs2684911	0.93[EUR][1000 genomes]
rs2684914	0.92[EUR][1000 genomes]
rs2684916	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2811998	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2811999	0.98[EUR][1000 genomes]
rs2812447	0.98[EUR][1000 genomes]
rs2812451	0.93[EUR][1000 genomes]
rs2812452	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2812453	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28810071	0.83[EUR][1000 genomes]
rs72710880	0.98[EUR][1000 genomes]
rs72710887	0.86[EUR][1000 genomes]
rs72711180	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv546690	chr1:84562265-84655238	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv871731	chr1:84597396-84658591	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv871656	chr1:84601048-84693671	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv997601	chr1:84609346-84672859	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1005225	chr1:84609871-84667950	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1002537	chr1:84611207-84658450	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv999772	chr1:84611207-84667218	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1013911	chr1:84619164-84667950	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv871375	chr1:84622793-84678418	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv871643	chr1:84628655-84705481	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
12	nsv871538	chr1:84633116-84717983	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv830414	chr1:84636738-84824651	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	nsv1011105	chr1:84638386-84674276	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84624000-84651800	Weak transcription	Thymus	Thymus
2	chr1:84629200-84654000	Weak transcription	Spleen	Spleen
3	chr1:84629400-84644400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:84630800-84648200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:84632600-84647800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:84632800-84647400	Weak transcription	Dnd41	blood
7	chr1:84633000-84648400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr1:84633000-84649600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:84634000-84647800	Weak transcription	Primary B cells from cord blood	blood
10	chr1:84634000-84648200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:84634800-84649400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:84634800-84651400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:84634800-84651800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:84635000-84656400	Weak transcription	Fetal Heart	heart
15	chr1:84636400-84643000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:84636400-84652400	Weak transcription	Fetal Brain Female	brain
17	chr1:84638200-84648200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:84640000-84641600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:84640000-84651600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:84640000-84651800	Weak transcription	Pancreas	Pancrea
21	chr1:84640000-84656600	Weak transcription	Left Ventricle	heart
22	chr1:84640000-84658800	Weak transcription	Fetal Brain Male	brain
23	chr1:84640200-84643000	Weak transcription	Brain Angular Gyrus	brain
24	chr1:84640200-84643000	Weak transcription	Brain Substantia Nigra	brain
25	chr1:84640200-84647800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:84640200-84651600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:84640200-84654800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:84640200-84655200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:84640200-84656400	Weak transcription	HSMMtube	muscle
30	chr1:84640200-84658600	Weak transcription	Osteobl	bone
31	chr1:84640400-84641400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:84640400-84641400	Weak transcription	Primary T cells from cord blood	blood
33	chr1:84640400-84641600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr1:84640400-84641600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:84640400-84642000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:84640400-84642600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:84640400-84642600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr1:84640400-84642600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:84640400-84643000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:84640400-84643600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:84640400-84648200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:84640400-84651400	Weak transcription	HSMM	muscle
43	chr1:84640400-84651600	Weak transcription	Fetal Intestine Large	intestine
44	chr1:84640400-84651800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:84640400-84651800	Weak transcription	Fetal Intestine Small	intestine
46	chr1:84640400-84653400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:84640400-84654800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:84640400-84655800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:84640400-84656600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:84640400-84658200	Weak transcription	NHDF-Ad	bronchial

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