Variant report

Variant	rs35211079
Chromosome Location	chr2:98276519-98276520
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:98273646-98277134	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:98274085-98276864	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:98276212-98276635	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:98263304-98277166	K562	blood:	n/a	n/a
5	POLR2A	chr2:98276251-98276625	GM12892	blood:	n/a	n/a
6	POLR2A	chr2:98276249-98276685	K562	blood:	n/a	n/a
7	POLR2A	chr2:98275539-98276899	GM12892	blood:	n/a	n/a
8	POLR2A	chr2:98274335-98277524	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:98276207-98276693	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:98274352-98276707	GM12892	blood:	n/a	n/a
11	POLR2A	chr2:98275737-98276739	K562	blood:	n/a	n/a
12	POLR2A	chr2:98276093-98277162	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:98275853-98276997	HL-60	blood:	n/a	n/a
14	POLR2A	chr2:98275670-98276557	GM12891	blood:	n/a	n/a
15	POLR2A	chr2:98276295-98276591	GM12892	blood:	n/a	n/a
16	POLR2A	chr2:98276290-98276714	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr2:98274036-98277810	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr2:98276168-98277832	K562	blood:	n/a	n/a

Variant related genes	Relation type
LINC01125	TF binding region
ACTR1B	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1020396	0.89[ASN][1000 genomes]
rs10496323	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11123861	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11547232	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11680855	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12994966	0.92[ASN][1000 genomes]
rs12997695	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13000505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003963	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13027550	0.81[AMR][1000 genomes]
rs13034349	0.92[ASN][1000 genomes]
rs1463173	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1463174	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1800649	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2276645	0.87[ASN][1000 genomes]
rs4086889	0.80[AMR][1000 genomes]
rs55772322	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56281704	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62157580	0.97[ASN][1000 genomes]

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	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	nsv431402	chr2:97669032-98281634	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	esv2763630	chr2:97731133-98279050	Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1005846	chr2:97972600-98281634	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv1009263	chr2:98013814-98281634	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	esv1829350	chr2:98170405-98315611	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	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
9	nsv582512	chr2:98272634-98277804	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs35211079	ANKRD36B	cis	lung	GTEx
rs35211079	AC017099.3	cis	Muscle Skeletal	GTEx
rs35211079	ANKRD36B	cis	Adipose Subcutaneous	GTEx
rs35211079	ANKRD36B	cis	Nerve Tibial	GTEx
rs35211079	ANKRD36B	cis	Artery Tibial	GTEx
rs35211079	ANKRD36B	cis	Esophagus Mucosa	GTEx
rs35211079	ANKRD36B	cis	Stomach	GTEx
rs35211079	ANKRD36B	cis	Thyroid	GTEx
rs35211079	ANKRD36B	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98264600-98277400	Weak transcription	Right Atrium	heart
2	chr2:98265200-98276800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:98265200-98277200	Weak transcription	HUVEC	blood vessel
4	chr2:98265600-98277600	Weak transcription	Small Intestine	intestine
5	chr2:98265600-98277800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:98265800-98277200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:98266600-98277200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:98270200-98276800	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:98270200-98277200	Strong transcription	Brain Cingulate Gyrus	brain
10	chr2:98270400-98277200	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr2:98270400-98278200	Strong transcription	Primary T cells from cord blood	blood
12	chr2:98270400-98278200	Weak transcription	Stomach Mucosa	stomach
13	chr2:98270600-98277000	Strong transcription	Osteobl	bone
14	chr2:98270600-98277400	Strong transcription	Dnd41	blood
15	chr2:98270600-98277600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:98270600-98277800	Strong transcription	Thymus	Thymus
17	chr2:98270800-98276800	Strong transcription	Right Ventricle	heart
18	chr2:98270800-98277400	Strong transcription	Rectal Smooth Muscle	rectum
19	chr2:98271000-98276800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:98271000-98277200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr2:98271000-98278000	Weak transcription	Fetal Brain Male	brain
22	chr2:98271200-98277000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:98271200-98277200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:98271200-98277200	Strong transcription	Adipose Nuclei	Adipose
25	chr2:98271200-98277600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:98271200-98277800	Strong transcription	Colonic Mucosa	Colon
27	chr2:98271200-98278000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:98271400-98276800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:98271400-98276800	Strong transcription	Fetal Muscle Trunk	muscle
30	chr2:98271400-98277000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr2:98271400-98277400	Strong transcription	Liver	Liver
32	chr2:98271400-98278000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:98271400-98278600	Weak transcription	Fetal Kidney	kidney
34	chr2:98271400-98278800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr2:98271600-98276600	Strong transcription	NHLF	lung
36	chr2:98271600-98276800	Strong transcription	Placenta	Placenta
37	chr2:98271600-98277000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:98271600-98277200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:98271600-98277200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:98271600-98277200	Strong transcription	Fetal Muscle Leg	muscle
41	chr2:98271600-98277400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:98271600-98277600	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:98271600-98277600	Strong transcription	Brain Germinal Matrix	brain
44	chr2:98271600-98277600	Strong transcription	Fetal Brain Female	brain
45	chr2:98271600-98277800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:98271600-98278400	Strong transcription	Fetal Thymus	thymus
47	chr2:98271800-98276800	Strong transcription	NHEK	skin
48	chr2:98271800-98277000	Strong transcription	Lung	lung
49	chr2:98271800-98277400	Strong transcription	Duodenum Mucosa	Duodenum
50	chr2:98272000-98277200	Strong transcription	Primary neutrophils fromperipheralblood	blood

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