Variant report

Variant	rs13382404
Chromosome Location	chr2:99344420-99344421
allele	A/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	ARID3A	chr2:99344181-99344479	HepG2	liver:	n/a	n/a
2	MXI1	chr2:99344164-99344780	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:99343338..99345259-chr2:99346373..99348700,3	MCF-7	breast:
2	chr2:99342514..99344879-chr2:99346177..99348798,2	K562	blood:
3	chr2:99342228..99344879-chr2:99346177..99348874,2	K562	blood:

Variant related genes	Relation type
MGAT4A	TF binding region
ENSG00000071073	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10183473	0.88[AFR][1000 genomes]
rs10191603	1.00[AFR][1000 genomes]
rs10207621	1.00[AFR][1000 genomes]
rs13408417	1.00[YRI][hapmap]
rs28419445	1.00[AFR][1000 genomes]
rs59230956	1.00[AFR][1000 genomes]
rs61547213	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv535836	chr2:99329084-99353519	Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv535837	chr2:99329084-99358356	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv535838	chr2:99335416-99358356	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99326400-99346400	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:99335200-99346600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:99335600-99345800	Weak transcription	Right Ventricle	heart
4	chr2:99337000-99346200	Weak transcription	Aorta	Aorta
5	chr2:99338000-99346200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:99338200-99346200	Weak transcription	Placenta	Placenta
7	chr2:99339000-99345800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:99340000-99345800	Weak transcription	Primary B cells from cord blood	blood
9	chr2:99340000-99345800	Weak transcription	Right Atrium	heart
10	chr2:99340200-99346600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:99340200-99346600	Weak transcription	Esophagus	oesophagus
12	chr2:99340400-99346200	Weak transcription	Lung	lung
13	chr2:99342200-99344800	Flanking Active TSS	HUVEC	blood vessel
14	chr2:99342200-99345000	Enhancers	Fetal Intestine Small	intestine
15	chr2:99342400-99344800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:99342400-99345000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:99342400-99345600	Enhancers	Fetal Intestine Large	intestine
18	chr2:99342600-99344800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:99342600-99345200	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr2:99342800-99345000	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr2:99342800-99346800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr2:99343000-99344800	Enhancers	Brain Angular Gyrus	brain
23	chr2:99343000-99345000	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr2:99343000-99345000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr2:99343000-99346000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:99343000-99346000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:99343000-99346200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr2:99343000-99346200	Weak transcription	NHEK	skin
29	chr2:99343000-99346600	Weak transcription	Gastric	stomach
30	chr2:99343200-99344600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr2:99343200-99344800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr2:99343200-99344800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr2:99343200-99344800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:99343400-99345000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr2:99343600-99344600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:99343600-99344600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:99343600-99344800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr2:99343600-99344800	Enhancers	Stomach Smooth Muscle	stomach
39	chr2:99343600-99345000	Enhancers	Primary B cells from peripheral blood	blood
40	chr2:99343600-99345000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr2:99343600-99345200	Enhancers	Brain Substantia Nigra	brain
42	chr2:99343600-99346200	Enhancers	Primary hematopoietic stem cells	blood
43	chr2:99343800-99344600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr2:99343800-99344800	Enhancers	Fetal Kidney	kidney
45	chr2:99343800-99345000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr2:99343800-99345400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:99343800-99345600	Enhancers	Fetal Thymus	thymus
48	chr2:99343800-99346200	Enhancers	Liver	Liver
49	chr2:99343800-99346800	Flanking Active TSS	Dnd41	blood
50	chr2:99344000-99344600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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