Variant report

Variant	rs56948188
Chromosome Location	chr2:98335217-98335218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98278882..98281534-chr2:98334105..98336255,2	K562	blood:
2	chr2:98323754..98326397-chr2:98334462..98336180,3	MCF-7	breast:
3	chr2:98334014..98335728-chr2:98339666..98342653,2	K562	blood:
4	chr2:98330772..98333242-chr2:98334688..98336662,2	K562	blood:

Variant related genes	Relation type
ENSG00000228486	Chromatin interaction
ENSG00000115073	Chromatin interaction
ENSG00000201806	Chromatin interaction
ENSG00000115085	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10460479	0.82[ASN][1000 genomes]
rs10460480	0.91[ASN][1000 genomes]
rs11687510	0.86[ASN][1000 genomes]
rs12053205	0.82[ASN][1000 genomes]
rs1562293	0.86[ASN][1000 genomes]
rs17033906	0.95[ASN][1000 genomes]
rs2278699	0.95[ASN][1000 genomes]
rs2289918	0.95[ASN][1000 genomes]
rs2289919	0.93[ASN][1000 genomes]
rs35321446	0.91[ASN][1000 genomes]
rs56293187	0.95[ASN][1000 genomes]
rs57831860	0.95[ASN][1000 genomes]
rs58019724	0.85[ASN][1000 genomes]
rs58511420	0.95[ASN][1000 genomes]
rs59562515	0.85[ASN][1000 genomes]
rs61228852	0.82[ASN][1000 genomes]
rs62157588	0.90[ASN][1000 genomes]
rs6711959	0.95[ASN][1000 genomes]
rs72951160	0.95[ASN][1000 genomes]
rs73963109	0.95[ASN][1000 genomes]
rs746003	0.95[ASN][1000 genomes]
rs746004	0.95[ASN][1000 genomes]
rs7565744	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv874696	chr2:98309882-98362907	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv33510	chr2:98317103-98341302	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98329000-98336000	Enhancers	Fetal Muscle Leg	muscle
2	chr2:98330000-98337200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:98330200-98335800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:98330800-98336000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
5	chr2:98331200-98335800	Transcr. at gene 5' and 3'	Thymus	Thymus
6	chr2:98331200-98337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:98331400-98336000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:98331400-98336200	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:98331600-98336000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:98331800-98335800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:98332000-98336000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:98332000-98340000	Weak transcription	Esophagus	oesophagus
13	chr2:98332400-98335800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:98332600-98335400	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr2:98332600-98337200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:98332800-98336000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:98333200-98336000	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr2:98333200-98336000	Enhancers	Fetal Muscle Trunk	muscle
19	chr2:98333400-98336000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr2:98333400-98336600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr2:98333400-98336600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:98333600-98341800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:98334000-98336000	Transcr. at gene 5' and 3'	Dnd41	blood
24	chr2:98334200-98335800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:98334200-98336200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr2:98334200-98336600	Enhancers	Primary hematopoietic stem cells	blood
27	chr2:98334400-98336000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr2:98334400-98336000	Active TSS	Colonic Mucosa	Colon
29	chr2:98334600-98335800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr2:98334600-98335800	Active TSS	Rectal Smooth Muscle	rectum
31	chr2:98334600-98336000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr2:98334600-98336000	Active TSS	Duodenum Mucosa	Duodenum
33	chr2:98334600-98336200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr2:98334800-98335800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:98334800-98336000	Enhancers	Spleen	Spleen
36	chr2:98335000-98335600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr2:98335000-98335600	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr2:98335000-98335600	Flanking Active TSS	GM12878-XiMat	blood
39	chr2:98335000-98335800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr2:98335000-98335800	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr2:98335000-98335800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:98335000-98335800	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr2:98335000-98336000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr2:98335000-98344800	Weak transcription	Right Atrium	heart
45	chr2:98335200-98335400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:98335200-98335400	Enhancers	Right Ventricle	heart
47	chr2:98335200-98335800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:98335200-98336400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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