Variant report

Variant	rs2271893
Chromosome Location	chr2:97405440-97405441
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:58602939..58605273-chr2:97404594..97406842,2	MCF-7	breast:
2	chr2:97405252..97405763-chr2:97426270..97426896,2	NB4	blood:
3	chr2:97403401..97407119-chr2:97425023..97428100,7	MCF-7	breast:
4	chr2:97405153..97407675-chr2:97425109..97427390,3	K562	blood:
5	chr2:97377199..97379924-chr2:97404975..97407018,2	MCF-7	breast:
6	chr2:97402906..97407899-chr2:97425229..97430147,10	MCF-7	breast:
7	chr2:97405027..97406967-chr2:97777321..97779642,2	K562	blood:
8	chr2:97404813..97407675-chr2:97425727..97428415,3	K562	blood:
9	chr2:97301549..97303722-chr2:97403763..97406916,3	K562	blood:
10	chr2:97303356..97305240-chr2:97403490..97407519,4	MCF-7	breast:
11	chr2:97301549..97303722-chr2:97403763..97405452,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000114982	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000135976	Chromatin interaction
ENSG00000062725	Chromatin interaction
ENSG00000259349	Chromatin interaction
ENSG00000114988	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2314398	0.82[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4619651	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56351161	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56361249	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58361269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746896	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67570263	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72809820	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72809827	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72809838	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7599624	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
8	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
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
15	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Bipolar disorder	22182935	GWAS catalog

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2271893	ANKRD36B	cis	cerebellum	SCAN
rs2271893	LMAN2L	cis	parietal	SCAN
rs2271893	ENSG00000114988	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97404800-97405600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr2:97404800-97405600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr2:97404800-97405600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:97404800-97405600	Flanking Active TSS	Colonic Mucosa	Colon
5	chr2:97404800-97406200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr2:97404800-97406200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr2:97404800-97406200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr2:97404800-97406200	Active TSS	Fetal Intestine Large	intestine
9	chr2:97404800-97406200	Active TSS	Fetal Kidney	kidney
10	chr2:97404800-97406200	Active TSS	Fetal Muscle Trunk	muscle
11	chr2:97404800-97406200	Active TSS	NHLF	lung
12	chr2:97404800-97406400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr2:97404800-97406400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:97404800-97406400	Active TSS	Psoas Muscle	Psoas
15	chr2:97404800-97406600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr2:97405000-97405600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr2:97405000-97405600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr2:97405000-97405600	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr2:97405000-97405600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr2:97405000-97405600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr2:97405000-97405600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:97405000-97405600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:97405000-97405600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr2:97405000-97405600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr2:97405000-97405600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr2:97405000-97405800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:97405000-97405800	Active TSS	Gastric	stomach
28	chr2:97405000-97405800	Active TSS	Lung	lung
29	chr2:97405000-97406000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:97405000-97406000	Active TSS	Esophagus	oesophagus
31	chr2:97405000-97406000	Active TSS	Fetal Intestine Small	intestine
32	chr2:97405000-97406000	Active TSS	Pancreas	Pancrea
33	chr2:97405000-97406200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr2:97405000-97406200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:97405000-97406200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:97405000-97406200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:97405000-97406200	Active TSS	A549	lung
38	chr2:97405000-97406400	Active TSS	H1 Cell Line	embryonic stem cell
39	chr2:97405000-97406400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:97405000-97406400	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr2:97405000-97406400	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr2:97405000-97406400	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr2:97405000-97406400	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr2:97405000-97406400	Active TSS	Aorta	Aorta
45	chr2:97405000-97406400	Active TSS	Ovary	ovary
46	chr2:97405000-97406400	Active TSS	Right Atrium	heart
47	chr2:97405000-97406400	Active TSS	GM12878-XiMat	blood
48	chr2:97405200-97405800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:97405200-97405800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:97405200-97405800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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