Variant report

Variant	rs6697247
Chromosome Location	chr1:160600242-160600243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:160598662..160600370-chr1:160606514..160608049,2	K562	blood:
2	chr1:160598148..160600427-chr1:160603712..160606354,2	MCF-7	breast:
3	chr1:160589254..160593885-chr1:160595406..160601586,7	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2753260	0.82[ASN][1000 genomes]
rs3753381	0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3753383	0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3753384	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv831703	chr1:160496124-160643024	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv831714	chr1:160581168-160776809	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6697247	CD84	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160591800-160605200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
2	chr1:160592800-160601400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:160594600-160601200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:160595000-160601400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:160595400-160611000	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr1:160596800-160604000	Weak transcription	Lung	lung
7	chr1:160596800-160608400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:160597400-160602400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:160598000-160605200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:160598400-160600400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr1:160598400-160601400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:160598600-160600400	Enhancers	Spleen	Spleen
13	chr1:160598600-160601400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:160598600-160601800	Enhancers	Placenta	Placenta
15	chr1:160598800-160601200	Enhancers	Fetal Intestine Small	intestine
16	chr1:160599000-160600600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:160599000-160601200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:160599000-160612200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:160599200-160600800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr1:160599200-160601400	Enhancers	K562	blood
21	chr1:160599400-160600400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:160599400-160600400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:160599400-160600600	Enhancers	Duodenum Mucosa	Duodenum
24	chr1:160599400-160600600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
25	chr1:160599400-160600800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr1:160599400-160600800	Enhancers	Primary hematopoietic stem cells	blood
27	chr1:160599400-160601000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:160599400-160601000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:160599400-160601200	Enhancers	Fetal Intestine Large	intestine
30	chr1:160599600-160600600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:160599600-160600600	Enhancers	Brain Germinal Matrix	brain
32	chr1:160599600-160600800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:160599600-160601200	Enhancers	Fetal Lung	lung
34	chr1:160599800-160600600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:160599800-160600800	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr1:160599800-160601400	Enhancers	Fetal Stomach	stomach
37	chr1:160599800-160603200	Genic enhancers	Primary B cells from cord blood	blood
38	chr1:160599800-160603400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr1:160599800-160607600	Genic enhancers	Primary T cells fromperipheralblood	blood
40	chr1:160599800-160607600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr1:160600000-160600400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr1:160600000-160600400	Enhancers	Primary T cells from cord blood	blood
43	chr1:160600000-160600400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr1:160600000-160601000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:160600000-160602400	Enhancers	Small Intestine	intestine
46	chr1:160600000-160603600	Enhancers	Dnd41	blood
47	chr1:160600000-160604400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:160600200-160600600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr1:160600200-160602200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:160600200-160603800	Transcr. at gene 5' and 3'	Thymus	Thymus

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