Variant report

Variant	rs4852324
Chromosome Location	chr2:74202578-74202579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74194837..74202788-chr2:74203103..74212249,15	K562	blood:
2	chr2:74196652..74199654-chr2:74200150..74203074,3	K562	blood:
3	chr2:74201754..74203376-chr2:74204161..74205966,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237883	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10166809	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs10166873	0.85[ASN][1000 genomes]
rs12713801	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs940296	0.89[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.83[LWK][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap]

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	nsv1011177	chr2:74167343-74239905	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Systemic lupus erythematosus	23273568	GWAS catalog

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74187200-74206600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:74187800-74202600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:74187800-74206200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:74198400-74208400	Weak transcription	Aorta	Aorta
5	chr2:74199000-74206200	Weak transcription	Esophagus	oesophagus
6	chr2:74199000-74206800	Weak transcription	Pancreas	Pancrea
7	chr2:74199200-74206000	Weak transcription	Lung	lung
8	chr2:74199200-74206200	Weak transcription	NHEK	skin
9	chr2:74199200-74206600	Weak transcription	A549	lung
10	chr2:74199400-74205400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:74199400-74205800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:74199600-74206200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:74200200-74205600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:74200200-74205600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:74200400-74202800	Weak transcription	Adipose Nuclei	Adipose
16	chr2:74200400-74207600	Weak transcription	Spleen	Spleen
17	chr2:74200600-74202600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:74200600-74202600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:74200600-74202600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:74200600-74202800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:74200600-74202800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:74200600-74203600	Weak transcription	K562	blood
23	chr2:74200600-74204200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:74200600-74204600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:74200600-74205600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:74200600-74205800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:74200600-74205800	Weak transcription	Thymus	Thymus
28	chr2:74200600-74206000	Weak transcription	Left Ventricle	heart
29	chr2:74200600-74208200	Weak transcription	Gastric	stomach
30	chr2:74200800-74202600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:74200800-74204800	Weak transcription	GM12878-XiMat	blood
32	chr2:74200800-74205400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr2:74200800-74206000	Weak transcription	Primary B cells from cord blood	blood
34	chr2:74201000-74205600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:74202000-74206400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr2:74202200-74203200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:74202200-74206000	Enhancers	Primary T cells from cord blood	blood
38	chr2:74202400-74202800	Enhancers	Stomach Mucosa	stomach
39	chr2:74202400-74203000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr2:74202400-74203000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:74202400-74203000	Enhancers	Fetal Thymus	thymus
42	chr2:74202400-74203200	Enhancers	Dnd41	blood
43	chr2:74202400-74203400	Enhancers	Primary T cells fromperipheralblood	blood
44	chr2:74202400-74206000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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