Variant report

Variant	rs55957600
Chromosome Location	chr2:98335811-98335812
allele	G/T
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	chr2:98330772..98333242-chr2:98334688..98336662,2	K562	blood:
4	chr2:98329030..98330806-chr2:98335758..98337511,2	K562	blood:

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17033906	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2278699	0.83[EUR][1000 genomes]
rs2289918	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2289919	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56293187	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57831860	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58511420	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6711959	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72951160	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73963107	0.86[EUR][1000 genomes]
rs73963109	0.94[EUR][1000 genomes]
rs746003	0.82[EUR][1000 genomes]
rs746004	0.82[EUR][1000 genomes]
rs7565744	0.83[AMR][1000 genomes];0.99[EUR][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:45 , 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	chr2:98330800-98336000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
4	chr2:98331200-98337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:98331400-98336000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:98331400-98336200	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:98331600-98336000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:98332000-98336000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:98332000-98340000	Weak transcription	Esophagus	oesophagus
10	chr2:98332600-98337200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:98332800-98336000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:98333200-98336000	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr2:98333200-98336000	Enhancers	Fetal Muscle Trunk	muscle
14	chr2:98333400-98336000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr2:98333400-98336600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr2:98333400-98336600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:98333600-98341800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:98334000-98336000	Transcr. at gene 5' and 3'	Dnd41	blood
19	chr2:98334200-98336200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr2:98334200-98336600	Enhancers	Primary hematopoietic stem cells	blood
21	chr2:98334400-98336000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr2:98334400-98336000	Active TSS	Colonic Mucosa	Colon
23	chr2:98334600-98336000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr2:98334600-98336000	Active TSS	Duodenum Mucosa	Duodenum
25	chr2:98334600-98336200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr2:98334800-98336000	Enhancers	Spleen	Spleen
27	chr2:98335000-98336000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr2:98335000-98344800	Weak transcription	Right Atrium	heart
29	chr2:98335200-98336400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr2:98335600-98336000	Enhancers	GM12878-XiMat	blood
31	chr2:98335600-98336200	Enhancers	Primary B cells from peripheral blood	blood
32	chr2:98335600-98336200	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr2:98335600-98338800	Weak transcription	Right Ventricle	heart
34	chr2:98335800-98336000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:98335800-98336000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:98335800-98336000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:98335800-98336200	Flanking Active TSS	Thymus	Thymus
38	chr2:98335800-98336400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr2:98335800-98336400	Enhancers	Primary B cells from cord blood	blood
40	chr2:98335800-98336400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:98335800-98336400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr2:98335800-98336600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:98335800-98337800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr2:98335800-98337800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr2:98335800-98337800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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