Variant report

Variant	rs582201
Chromosome Location	chr1:84640691-84640692
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:84639591-84640709	HCT-116	colon:	n/a	n/a
2	FOXA2	chr1:84640013-84640696	A549	lung:	n/a	n/a

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:

Variant related genes	Relation type
PRKACB	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10430066	1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12030564	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039442	1.00[EUR][1000 genomes]
rs12047035	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567002	1.00[EUR][1000 genomes]
rs2812448	1.00[ASW][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs599941	1.00[EUR][1000 genomes]
rs636247	1.00[YRI][hapmap]
rs655849	1.00[EUR][1000 genomes]
rs657603	1.00[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:66 , 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	chr1:84639200-84641200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:84639600-84640800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:84639600-84641200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:84639800-84640800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr1:84640000-84641600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr1:84640000-84651600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:84640000-84651800	Weak transcription	Pancreas	Pancrea
25	chr1:84640000-84656600	Weak transcription	Left Ventricle	heart
26	chr1:84640000-84658800	Weak transcription	Fetal Brain Male	brain
27	chr1:84640200-84640800	Enhancers	Brain Anterior Caudate	brain
28	chr1:84640200-84641200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:84640200-84641200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:84640200-84641200	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:84640200-84643000	Weak transcription	Brain Angular Gyrus	brain
32	chr1:84640200-84643000	Weak transcription	Brain Substantia Nigra	brain
33	chr1:84640200-84647800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:84640200-84651600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:84640200-84654800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:84640200-84655200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:84640200-84656400	Weak transcription	HSMMtube	muscle
38	chr1:84640200-84658600	Weak transcription	Osteobl	bone
39	chr1:84640400-84641400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:84640400-84641400	Weak transcription	Primary T cells from cord blood	blood
41	chr1:84640400-84641600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:84640400-84641600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:84640400-84642000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:84640400-84642600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:84640400-84642600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:84640400-84642600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:84640400-84643000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr1:84640400-84643600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:84640400-84648200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:84640400-84651400	Weak transcription	HSMM	muscle

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