Variant report

Variant	rs6576972
Chromosome Location	chr2:97152446-97152447
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	chr2:97148964..97151010-chr2:97152082..97154631,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1011040	0.88[CEU][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs10170018	0.82[EUR][1000 genomes]
rs10209780	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12329128	0.81[CEU][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs12477963	0.83[TSI][hapmap]
rs12717781	0.84[CEU][hapmap]
rs12992413	0.84[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs13029764	0.88[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap]
rs17685664	0.87[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs2083276	0.84[EUR][1000 genomes]
rs2464914	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2579502	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs2579505	1.00[CEU][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2708976	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2708977	0.81[EUR][1000 genomes]
rs2708978	0.85[EUR][1000 genomes]
rs34029026	0.84[CEU][hapmap];0.82[TSI][hapmap]
rs3731938	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs582014	0.80[CEU][hapmap]
rs596069	0.88[CEU][hapmap];0.90[CHB][hapmap];0.84[MEX][hapmap]
rs609765	0.82[EUR][1000 genomes]
rs612017	0.82[EUR][1000 genomes]
rs6753667	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs749027	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs772156	0.84[CEU][hapmap]
rs772173	0.84[CEU][hapmap];0.84[MEX][hapmap]
rs772174	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6576972	ADRA2B	cis	cerebellum	SCAN
rs6576972	TMEM127	cis	parietal	SCAN
rs6576972	LOC285033	cis	parietal	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97151000-97152800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr2:97151000-97152800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:97151200-97152600	Active TSS	Stomach Smooth Muscle	stomach
4	chr2:97151200-97152800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:97151200-97152800	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr2:97151400-97152600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
7	chr2:97151400-97152600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:97151400-97152600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:97151400-97152600	Active TSS	Right Atrium	heart
10	chr2:97151400-97152800	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr2:97151600-97152600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:97151600-97152600	Active TSS	Colon Smooth Muscle	Colon
13	chr2:97151600-97152600	Active TSS	Fetal Kidney	kidney
14	chr2:97151600-97152600	Active TSS	Stomach Mucosa	stomach
15	chr2:97151600-97152800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:97151600-97152800	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr2:97151800-97152600	Active TSS	Brain Substantia Nigra	brain
18	chr2:97151800-97152600	Active TSS	Rectal Smooth Muscle	rectum
19	chr2:97151800-97152800	Active TSS	GM12878-XiMat	blood
20	chr2:97152000-97152600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:97152000-97152600	Flanking Active TSS	Colonic Mucosa	Colon
22	chr2:97152000-97152800	Flanking Active TSS	NHEK	skin
23	chr2:97152200-97152600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:97152200-97152600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:97152200-97152600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr2:97152200-97152800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:97152200-97152800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr2:97152200-97152800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr2:97152200-97152800	Flanking Active TSS	Osteobl	bone
30	chr2:97152200-97153000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr2:97152400-97152600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:97152400-97152600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
33	chr2:97152400-97152600	Enhancers	Primary hematopoietic stem cells	blood
34	chr2:97152400-97152600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr2:97152400-97152600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:97152400-97152600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr2:97152400-97152600	Enhancers	Fetal Muscle Leg	muscle
38	chr2:97152400-97152600	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr2:97152400-97152600	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr2:97152400-97152600	Bivalent Enhancer	HepG2	liver
41	chr2:97152400-97152600	Enhancers	HSMM	muscle
42	chr2:97152400-97152600	Enhancers	NHDF-Ad	bronchial
43	chr2:97152400-97152800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr2:97152400-97152800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
45	chr2:97152400-97152800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:97152400-97152800	Enhancers	Primary B cells from peripheral blood	blood
47	chr2:97152400-97152800	Enhancers	Primary T cells fromperipheralblood	blood
48	chr2:97152400-97152800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr2:97152400-97152800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr2:97152400-97152800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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