Variant report

Variant	rs13387412
Chromosome Location	chr2:74319113-74319114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74311799..74313643-chr2:74317613..74320448,2	K562	blood:
2	chr2:74314378..74316915-chr2:74318069..74319795,2	MCF-7	breast:
3	chr2:74211242..74213306-chr2:74316844..74319457,2	MCF-7	breast:
4	chr2:74209608..74214006-chr2:74318475..74321886,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255989	Chromatin interaction
ENSG00000235499	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10164943	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10168410	0.87[ASN][1000 genomes]
rs10179742	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10179967	0.87[ASN][1000 genomes]
rs10182376	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10184542	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10186781	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10191539	1.00[JPT][hapmap]
rs10192993	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198884	0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11885172	1.00[JPT][hapmap]
rs11886928	1.00[JPT][hapmap]
rs12713804	0.88[JPT][hapmap]
rs12713808	0.86[ASN][1000 genomes]
rs12713809	0.87[ASN][1000 genomes]
rs12713810	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13006301	0.86[ASN][1000 genomes]
rs13014576	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13021880	0.90[ASN][1000 genomes]
rs13027288	0.90[ASN][1000 genomes]
rs13387010	0.86[ASN][1000 genomes]
rs13396777	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13413697	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426799	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28421442	1.00[EUR][1000 genomes]
rs28460865	0.88[ASN][1000 genomes]
rs3902790	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4073048	0.84[ASN][1000 genomes]
rs4241260	0.86[ASN][1000 genomes]
rs4331526	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4338985	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4364046	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4574138	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4578887	0.84[ASN][1000 genomes]
rs4621184	0.86[ASN][1000 genomes]
rs4852326	1.00[JPT][hapmap]
rs4853003	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4853005	1.00[JPT][hapmap]
rs4853006	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs4853007	1.00[JPT][hapmap]
rs4853009	0.87[ASN][1000 genomes]
rs60279245	0.90[ASN][1000 genomes]
rs6546886	1.00[JPT][hapmap]
rs6546887	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs6546889	1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741544	0.84[ASN][1000 genomes]
rs6745236	1.00[JPT][hapmap]
rs6745576	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6745792	1.00[JPT][hapmap]
rs6755711	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6756474	1.00[JPT][hapmap]
rs7560668	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7568898	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7584777	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7587991	0.87[ASN][1000 genomes]
rs7592749	0.84[ASN][1000 genomes]
rs7595401	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7601526	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7606491	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9309478	1.00[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874284	chr2:74283728-74348797	Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv874285	chr2:74283728-74355244	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74269800-74328000	Weak transcription	Psoas Muscle	Psoas
2	chr2:74282000-74319600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:74298400-74320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:74299800-74332000	Strong transcription	Dnd41	blood
5	chr2:74299800-74333800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:74300000-74333200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:74300800-74333600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:74303200-74321000	Weak transcription	Fetal Brain Male	brain
9	chr2:74306000-74332400	Strong transcription	Fetal Intestine Small	intestine
10	chr2:74306400-74332000	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr2:74306800-74323000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:74306800-74323000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:74306800-74323600	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:74306800-74323600	Strong transcription	Brain Germinal Matrix	brain
15	chr2:74306800-74323600	Strong transcription	Fetal Intestine Large	intestine
16	chr2:74306800-74330400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:74307000-74324200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:74307000-74332600	Strong transcription	Primary T cells from cord blood	blood
19	chr2:74307200-74331800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:74307200-74332600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:74307200-74333000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:74307400-74322600	Strong transcription	Fetal Brain Female	brain
23	chr2:74307400-74323600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr2:74307400-74325200	Strong transcription	Fetal Thymus	thymus
25	chr2:74307400-74326000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:74307400-74330400	Strong transcription	Thymus	Thymus
27	chr2:74307600-74322800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr2:74307600-74323600	Strong transcription	Liver	Liver
29	chr2:74307600-74326000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:74307600-74331000	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:74307600-74332000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr2:74307600-74333400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:74308000-74323000	Strong transcription	Adipose Nuclei	Adipose
34	chr2:74308200-74332600	Strong transcription	GM12878-XiMat	blood
35	chr2:74308400-74336200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr2:74308600-74323000	Strong transcription	Spleen	Spleen
37	chr2:74308600-74325000	Strong transcription	Fetal Muscle Trunk	muscle
38	chr2:74308600-74333200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr2:74308800-74320200	Weak transcription	Osteobl	bone
40	chr2:74309200-74321600	Weak transcription	NHDF-Ad	bronchial
41	chr2:74309600-74323000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:74311200-74321600	Weak transcription	Hela-S3	cervix
43	chr2:74311200-74326400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:74312200-74322400	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr2:74312200-74322600	Strong transcription	NHEK	skin
46	chr2:74312200-74325000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:74312200-74333800	Strong transcription	Fetal Stomach	stomach
48	chr2:74312400-74320200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:74313600-74322600	Strong transcription	Right Ventricle	heart
50	chr2:74313600-74323000	Strong transcription	Fetal Lung	lung

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