Variant report

Variant	rs73123128
Chromosome Location	chr2:234454681-234454682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234452682..234455147-chr2:234473464..234475374,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGT1A8-4	chr2:234454128-234455678	NONHSAT077497

Variant related genes	Relation type
ENSG00000085982	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10171805	1.00[AMR][1000 genomes]
rs10182818	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13389374	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13390054	1.00[EUR][1000 genomes]
rs13395852	1.00[EUR][1000 genomes]
rs13398912	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13401703	1.00[EUR][1000 genomes]
rs13403667	1.00[EUR][1000 genomes]
rs13406202	1.00[EUR][1000 genomes]
rs28538197	1.00[AMR][1000 genomes]
rs28898571	1.00[EUR][1000 genomes]
rs28898573	1.00[EUR][1000 genomes]
rs28898598	1.00[EUR][1000 genomes]
rs28900378	1.00[EUR][1000 genomes]
rs28900380	1.00[EUR][1000 genomes]
rs28968515	1.00[EUR][1000 genomes]
rs28969703	1.00[EUR][1000 genomes]
rs28969712	1.00[EUR][1000 genomes]
rs28969974	1.00[EUR][1000 genomes]
rs28970005	1.00[EUR][1000 genomes]
rs28970006	1.00[EUR][1000 genomes]
rs28970014	1.00[EUR][1000 genomes]
rs28970015	1.00[EUR][1000 genomes]
rs45498701	1.00[EUR][1000 genomes]
rs45505392	1.00[EUR][1000 genomes]
rs45548336	1.00[EUR][1000 genomes]
rs45568235	1.00[EUR][1000 genomes]
rs56094972	1.00[AMR][1000 genomes]
rs73121108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73123133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73123137	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73123148	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73123150	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7594222	1.00[EUR][1000 genomes]
rs9287602	1.00[AMR][1000 genomes];1.00[EUR][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	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234387400-234466000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:234402200-234472400	Weak transcription	Psoas Muscle	Psoas
3	chr2:234404400-234455000	Weak transcription	Fetal Thymus	thymus
4	chr2:234411600-234465600	Weak transcription	Thymus	Thymus
5	chr2:234413000-234474200	Weak transcription	Fetal Heart	heart
6	chr2:234414000-234461800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr2:234423200-234473400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:234426200-234474000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:234427000-234466200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:234427400-234463800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:234428800-234474400	Weak transcription	Brain Germinal Matrix	brain
12	chr2:234430200-234473800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:234430800-234472800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:234432000-234467600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:234432200-234474800	Weak transcription	Spleen	Spleen
16	chr2:234432600-234474400	Weak transcription	Colonic Mucosa	Colon
17	chr2:234433000-234462600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:234434600-234466200	Weak transcription	Right Ventricle	heart
19	chr2:234437200-234474400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:234438000-234459800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:234440200-234458200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:234440800-234465600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:234441200-234460400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:234441600-234465800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:234441600-234466200	Weak transcription	Esophagus	oesophagus
26	chr2:234441600-234474800	Weak transcription	Gastric	stomach
27	chr2:234442400-234456400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:234442400-234474400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:234442600-234459400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:234442600-234465600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:234443400-234466000	Weak transcription	Fetal Brain Female	brain
32	chr2:234446800-234459400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:234447000-234456600	Strong transcription	A549	lung
34	chr2:234447400-234464400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:234447800-234463800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:234447800-234474800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:234448800-234458200	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:234449000-234457600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:234449400-234465200	Weak transcription	Dnd41	blood
40	chr2:234450000-234455400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:234450200-234465400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:234451000-234455400	Strong transcription	Ovary	ovary
43	chr2:234451000-234456600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:234451000-234456800	Strong transcription	Fetal Muscle Leg	muscle
45	chr2:234451000-234457800	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:234451200-234474200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr2:234451400-234456800	Strong transcription	Primary T cells from cord blood	blood
48	chr2:234451800-234456400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr2:234451800-234457600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:234451800-234462200	Weak transcription	NHLF	lung

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