Variant report

Variant	rs11708174
Chromosome Location	chr3:49509968-49509969
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49506494..49510419-chr3:49709515..49713189,4	MCF-7	breast:
2	chr3:49056423..49060378-chr3:49506507..49510634,4	K562	blood:
3	chr3:49508269..49511222-chr3:49551619..49554342,2	K562	blood:

Variant related genes	Relation type
ENSG00000164062	Chromatin interaction
ENSG00000178149	Chromatin interaction
ENSG00000207605	Chromatin interaction
ENSG00000178057	Chromatin interaction
ENSG00000199032	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11130197	1.00[YRI][hapmap]
rs1522929	1.00[YRI][hapmap]
rs17080495	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap]
rs17080510	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap]
rs17080664	0.91[YRI][hapmap]
rs1996874	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2311801	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap]
rs2329024	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs3870334	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap]
rs3870340	0.82[ASW][hapmap];1.00[YRI][hapmap]
rs3912831	1.00[YRI][hapmap]
rs4241409	1.00[YRI][hapmap]
rs4855856	1.00[YRI][hapmap]
rs4855857	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4855879	1.00[YRI][hapmap]
rs6446273	1.00[YRI][hapmap]
rs6446278	0.88[YRI][hapmap]
rs6762593	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6797164	1.00[YRI][hapmap]
rs7646393	1.00[YRI][hapmap]
rs8179172	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]

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	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3420339	chr3:49505548-49510046	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49508200-49510000	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr3:49508400-49510000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr3:49508600-49510000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr3:49508600-49510000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:49508600-49510000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:49508600-49510000	Flanking Active TSS	Rectal Smooth Muscle	rectum
7	chr3:49508600-49510000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr3:49508600-49510000	Flanking Active TSS	Hela-S3	cervix
9	chr3:49508800-49510000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:49508800-49510000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr3:49508800-49510000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr3:49508800-49510000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:49508800-49510000	Enhancers	Fetal Thymus	thymus
14	chr3:49508800-49510200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr3:49508800-49511200	Enhancers	Placenta	Placenta
16	chr3:49509000-49510000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:49509000-49510000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:49509000-49510000	Enhancers	Primary T cells from cord blood	blood
19	chr3:49509000-49510000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:49509000-49510000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr3:49509000-49510000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:49509000-49510000	Enhancers	Small Intestine	intestine
23	chr3:49509000-49510400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:49509000-49511200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr3:49509200-49510000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr3:49509200-49510000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr3:49509200-49510400	Enhancers	Stomach Mucosa	stomach
28	chr3:49509400-49510000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:49509400-49510000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr3:49509400-49510000	Enhancers	Colon Smooth Muscle	Colon
31	chr3:49509400-49510000	Enhancers	Fetal Intestine Large	intestine
32	chr3:49509400-49510000	Enhancers	Fetal Kidney	kidney
33	chr3:49509400-49510000	Enhancers	Fetal Stomach	stomach
34	chr3:49509400-49513600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:49509400-49514200	Weak transcription	Thymus	Thymus
36	chr3:49509400-49520200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr3:49509600-49510000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr3:49509600-49510000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:49509600-49510000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:49509600-49510000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:49509600-49510000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:49509600-49510000	Enhancers	Brain Anterior Caudate	brain
43	chr3:49509600-49510000	Enhancers	Psoas Muscle	Psoas
44	chr3:49509600-49510000	Enhancers	Right Atrium	heart
45	chr3:49509600-49510000	Enhancers	Right Ventricle	heart
46	chr3:49509600-49510000	Genic enhancers	Dnd41	blood
47	chr3:49509600-49510400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:49509600-49513600	Weak transcription	HUVEC	blood vessel
49	chr3:49509600-49513800	Weak transcription	NH-A	brain
50	chr3:49509600-49514200	Weak transcription	Fetal Brain Female	brain

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