Variant report

Variant	rs12084061
Chromosome Location	chr1:160833114-160833115
allele	A/G
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	SPI1	chr1:160833093-160833757	GM12878	blood:	n/a	chr1:160833722-160833731 chr1:160833456-160833463 chr1:160833454-160833467
2	POLR2A	chr1:160833084-160834145	K562	blood:	n/a	n/a

Variant related genes	Relation type
CD244	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11265494	0.87[AMR][1000 genomes]
rs12060017	1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs12065420	1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs12073515	1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs12074019	1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs12095453	1.00[YRI][hapmap]
rs12354107	0.87[AMR][1000 genomes]
rs12354108	0.87[AMR][1000 genomes]
rs16832486	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832506	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464161	chr1:160747615-160852046	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv548057	chr1:160747615-160852046	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160828600-160835000	Weak transcription	Fetal Intestine Large	intestine
2	chr1:160830000-160833200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:160830000-160833800	Enhancers	Primary B cells from cord blood	blood
4	chr1:160830200-160834200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr1:160830600-160833600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr1:160831200-160833600	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:160831800-160834400	Enhancers	GM12878-XiMat	blood
8	chr1:160832200-160837400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:160832400-160833800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:160832400-160834000	Enhancers	Fetal Thymus	thymus
11	chr1:160832600-160835400	Enhancers	Primary hematopoietic stem cells	blood
12	chr1:160832600-160835400	Weak transcription	Liver	Liver
13	chr1:160832600-160835400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:160832600-160835400	Weak transcription	Right Atrium	heart
15	chr1:160832600-160835600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:160832600-160847400	Weak transcription	Spleen	Spleen
17	chr1:160832800-160833200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr1:160832800-160833200	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr1:160832800-160833800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr1:160832800-160834000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:160832800-160834000	Enhancers	Primary T cells fromperipheralblood	blood
22	chr1:160832800-160834000	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr1:160832800-160834600	Enhancers	Ovary	ovary
24	chr1:160833000-160833800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:160833000-160834000	Weak transcription	Fetal Intestine Small	intestine
26	chr1:160833000-160834600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:160833000-160834800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr1:160833000-160835400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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