Variant report

Variant	rs4260249
Chromosome Location	chr2:113494250-113494251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113484570..113488496-chr2:113489411..113495681,5	K562	blood:
2	chr2:113389533..113392236-chr2:113492953..113495168,2	K562	blood:
3	chr2:113493806..113496306-chr2:113496451..113497981,2	K562	blood:
4	chr2:113494174..113497149-chr2:113498169..113501169,3	K562	blood:

Variant related genes	Relation type
ENSG00000144130	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10187863	1.00[YRI][hapmap]
rs10209160	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1040191	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17042341	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17042342	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17042344	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2048874	1.00[LWK][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2138604	0.93[AFR][1000 genomes]
rs6542088	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6542089	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6731822	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7559917	0.93[AFR][1000 genomes]
rs908550	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv526301	chr2:113451498-113495785	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113484200-113497200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:113484400-113494800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:113484400-113495000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:113484400-113495600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:113484400-113495600	Weak transcription	Thymus	Thymus
6	chr2:113484400-113495800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:113484400-113495800	Weak transcription	GM12878-XiMat	blood
8	chr2:113484400-113496400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:113484400-113507400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:113484600-113507600	Weak transcription	Colonic Mucosa	Colon
11	chr2:113484800-113494400	Weak transcription	NHEK	skin
12	chr2:113484800-113494600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:113484800-113494800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:113484800-113495600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:113484800-113496200	Weak transcription	NHDF-Ad	bronchial
16	chr2:113484800-113507600	Weak transcription	Primary B cells from cord blood	blood
17	chr2:113485000-113494800	Weak transcription	Dnd41	blood
18	chr2:113485200-113494800	Weak transcription	HMEC	breast
19	chr2:113486200-113494400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:113486200-113494600	Weak transcription	Fetal Stomach	stomach
21	chr2:113486200-113495000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:113486400-113495800	Weak transcription	HUVEC	blood vessel
23	chr2:113486600-113496200	Weak transcription	Placenta	Placenta
24	chr2:113486600-113511600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:113487600-113495800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:113487600-113495800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:113487600-113496000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:113488200-113494800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr2:113488200-113495800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr2:113488200-113495800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:113488200-113507400	Weak transcription	Spleen	Spleen
32	chr2:113488600-113495200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:113489600-113494400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:113491000-113494800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:113491000-113520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:113491200-113495400	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:113491400-113495600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:113491400-113498800	Weak transcription	Fetal Kidney	kidney
39	chr2:113491800-113494600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:113491800-113507200	Weak transcription	Fetal Brain Female	brain
41	chr2:113492000-113497600	Weak transcription	K562	blood
42	chr2:113492200-113494400	Weak transcription	Stomach Mucosa	stomach
43	chr2:113492200-113495400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:113492200-113495800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:113492200-113497600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:113492200-113512000	Weak transcription	Fetal Heart	heart
47	chr2:113492400-113494800	Weak transcription	Fetal Intestine Large	intestine
48	chr2:113492400-113497400	Weak transcription	NHLF	lung
49	chr2:113492400-113498000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:113492400-113498000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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