Variant report

Variant	rs57341121
Chromosome Location	chr2:100723457-100723458
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:100723417-100723467	SKMC	muscle:	n/a
2	chr2:100723417-100723467	HEK293	kidney:	embryo
3	chr2:100723417-100723467	GM12878	blood:	n/a
4	chr2:100723417-100723467	MCF-7	breast:	n/a
5	chr2:100723417-100723467	HepG2	liver:	n/a
6	chr2:100723417-100723467	GM06990	blood:	n/a
7	chr2:100723417-100723467	HL-60	blood:	n/a
8	chr2:100723417-100723467	HRPEpiC	eye:	n/a
9	chr2:100723417-100723467	ovcar-3	ovarian:	n/a
10	chr2:100723417-100723467	HPAEpiC	pulmonary alveolar:	n/a
11	chr2:100723417-100723467	SK-N-SH	brain:	n/a
12	chr2:100723417-100723467	HCF	heart:	n/a
13	chr2:100723417-100723467	HIPEpiC	eye:	n/a
14	chr2:100723417-100723467	HUVEC	blood vessel:	n/a
15	chr2:100723417-100723467	AG09309	skin:	n/a
16	chr2:100723417-100723467	GM12891	blood:	n/a
17	chr2:100723417-100723467	HCPEpiC	choroid plexus:	n/a
18	chr2:100723417-100723467	GM19239	blood:	n/a
19	chr2:100723417-100723467	PrEC	prostate:	n/a
20	chr2:100723417-100723467	A549	lung:	n/a
21	chr2:100723417-100723467	SK-N-SH_RA	brain:	n/a
22	chr2:100723417-100723467	HCT-116	colon:	n/a
23	chr2:100723417-100723467	NB4	blood:	n/a
24	chr2:100723417-100723467	GM12892	blood:	n/a
25	chr2:100723417-100723467	HNPCEpiC	eye:	n/a
26	chr2:100723417-100723467	AG10803	skin:	n/a
27	chr2:100723417-100723467	HRE	kidney:	n/a
28	chr2:100723417-100723467	MCF10A-Er-Src	breast:	n/a
29	chr2:100723417-100723467	BJ	skin:	n/a
30	chr2:100723417-100723467	K562	blood:	n/a
31	chr2:100723417-100723467	ECC-1	luminal epithelium:	n/a
32	chr2:100723417-100723467	AG04449	skin:	fetal
33	chr2:100723417-100723467	RPTEC	kidney:	n/a
34	chr2:100723417-100723467	NHDF-neo	bronchial:	n/a
35	chr2:100723417-100723467	ProgFib	skin:	n/a
36	chr2:100723417-100723467	AG09319	gingival:	n/a
37	chr2:100723417-100723467	AG04450	lung:	fetal
38	chr2:100723417-100723467	HCM	heart:	n/a
39	chr2:100723417-100723467	HAEpiC	amniotic membrane:	n/a
40	chr2:100723417-100723467	PANC-1	pancreas:	n/a
41	chr2:100723417-100723467	SAEC	small airway:	n/a
42	chr2:100723417-100723467	U87	brain:	n/a
43	chr2:100723417-100723467	HRCEpiC	kidney:	n/a
44	chr2:100723417-100723467	NT2-D1	testis:	n/a
45	chr2:100723417-100723467	SK-N-MC	brain:	n/a
46	chr2:100723417-100723467	IMR90	lung:	fetal
47	chr2:100723417-100723467	HMEC	breast:	n/a
48	chr2:100723417-100723467	HEEpiC	esophagus:	n/a
49	chr2:100723417-100723467	Caco-2	colon:	n/a
50	chr2:100723417-100723467	Hepatocyte	liver:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NMS-2	chr2:100721381-100723966	ENSG00000230393.1

No data

Variant related genes	Relation type
AFF3	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56710070	0.89[AFR][1000 genomes]
rs6716201	0.94[AFR][1000 genomes]
rs72966466	0.82[AFR][1000 genomes]
rs72966479	0.94[AFR][1000 genomes]
rs72966491	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv458707	chr2:100687778-100753490	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv582529	chr2:100687778-100753490	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1793611	chr2:100693049-100725966	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv2847	chr2:100695863-100726149	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100722000-100725200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:100722000-100729400	Weak transcription	Dnd41	blood
3	chr2:100722200-100726200	Genic enhancers	Primary B cells from cord blood	blood
4	chr2:100722200-100726800	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr2:100722200-100727600	Weak transcription	Primary T cells from cord blood	blood
6	chr2:100722400-100726200	Weak transcription	Thymus	Thymus
7	chr2:100722400-100726400	Weak transcription	Spleen	Spleen
8	chr2:100722400-100726600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:100722400-100726600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:100722400-100730000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:100722600-100724000	Enhancers	Fetal Stomach	stomach
12	chr2:100722600-100724600	Enhancers	Colon Smooth Muscle	Colon
13	chr2:100722600-100725400	Enhancers	Fetal Kidney	kidney
14	chr2:100722600-100726000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:100722600-100726000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:100722600-100726200	Weak transcription	Fetal Thymus	thymus
17	chr2:100722800-100723600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr2:100722800-100724600	Enhancers	Rectal Smooth Muscle	rectum
19	chr2:100722800-100725400	Enhancers	Fetal Brain Male	brain
20	chr2:100723000-100723800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:100723000-100727000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:100723200-100723600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
23	chr2:100723200-100724000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:100723200-100724000	Weak transcription	Fetal Brain Female	brain
25	chr2:100723200-100724000	Weak transcription	Ovary	ovary
26	chr2:100723200-100724200	Enhancers	Fetal Lung	lung
27	chr2:100723200-100724400	Weak transcription	Gastric	stomach
28	chr2:100723200-100724800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:100723400-100723600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
30	chr2:100723400-100723600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
31	chr2:100723400-100723600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
32	chr2:100723400-100723600	Bivalent Enhancer	Fetal Intestine Small	intestine
33	chr2:100723400-100724200	Weak transcription	Brain Angular Gyrus	brain
34	chr2:100723400-100724400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:100723400-100724600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:100723400-100724800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:100723400-100724800	Weak transcription	Brain Germinal Matrix	brain

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