Variant report

Variant	rs72951160
Chromosome Location	chr2:98348082-98348083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98343226..98345412-chr2:98346689..98348407,3	K562	blood:
2	chr2:98346943..98349545-chr2:98349557..98351669,3	K562	blood:

Variant related genes	Relation type
ENSG00000115085	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10432617	0.80[ASN][1000 genomes]
rs10432627	0.80[ASN][1000 genomes]
rs10432628	0.80[ASN][1000 genomes]
rs10460479	0.84[ASN][1000 genomes]
rs10460480	0.93[ASN][1000 genomes]
rs11687510	0.84[ASN][1000 genomes]
rs12053205	0.87[ASN][1000 genomes]
rs1562293	0.90[ASN][1000 genomes]
rs17033906	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278699	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289918	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289919	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35321446	0.95[ASN][1000 genomes]
rs55957600	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56293187	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56948188	0.95[ASN][1000 genomes]
rs57831860	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58019724	0.89[ASN][1000 genomes]
rs58511420	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59562515	0.89[ASN][1000 genomes]
rs61228852	0.87[ASN][1000 genomes]
rs62157588	0.94[ASN][1000 genomes]
rs6711959	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73963107	0.87[EUR][1000 genomes]
rs73963109	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746003	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746004	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565744	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	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
2	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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98336200-98351200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:98336400-98361400	Weak transcription	Primary B cells from cord blood	blood
3	chr2:98336600-98358800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:98337800-98357400	Strong transcription	Dnd41	blood
5	chr2:98338800-98358800	Strong transcription	Thymus	Thymus
6	chr2:98339600-98357200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:98341000-98354800	Weak transcription	Gastric	stomach
8	chr2:98342600-98357200	Strong transcription	Primary T cells from cord blood	blood
9	chr2:98343600-98357200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:98344800-98356400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:98344800-98356800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:98345000-98366400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:98345800-98348400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:98346000-98357000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:98346800-98348200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:98346800-98350800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr2:98346800-98351200	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr2:98347000-98348800	Strong transcription	Fetal Thymus	thymus
19	chr2:98347000-98349000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:98347000-98349200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:98347000-98360600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:98347200-98350200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:98347200-98357400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:98347200-98358800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:98347600-98348200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:98347600-98348600	Enhancers	Fetal Muscle Trunk	muscle
27	chr2:98347600-98349000	Enhancers	Fetal Muscle Leg	muscle
28	chr2:98347800-98348200	Strong transcription	Spleen	Spleen
29	chr2:98347800-98351600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:98347800-98356200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:98348000-98348200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:98348000-98348200	Enhancers	Esophagus	oesophagus
33	chr2:98348000-98350200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood

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