Variant report

Variant	rs4986949
Chromosome Location	chr11:67353677-67353678
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67353656..67356234-chr11:67410446..67412031,2	K562	blood:
2	chr11:67353657..67355705-chr11:67384092..67385924,2	K562	blood:
3	chr11:67269844..67272585-chr11:67351352..67354034,3	K562	blood:
4	chr11:67347575..67355744-chr11:67372717..67376912,13	K562	blood:
5	chr11:67347249..67355748-chr11:67372717..67377095,16	K562	blood:
6	chr11:67269985..67274388-chr11:67349964..67354078,4	K562	blood:
7	chr11:67351259..67353873-chr11:67373020..67375265,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110697	Chromatin interaction
ENSG00000255119	Chromatin interaction
ENSG00000167792	Chromatin interaction
ENSG00000184224	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11227870	1.00[CHB][hapmap]
rs11227873	1.00[CHB][hapmap]
rs11601245	1.00[CHB][hapmap]
rs1638558	1.00[CHB][hapmap]
rs17882466	1.00[CHB][hapmap]
rs2514034	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
4	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
5	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
6	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
7	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
8	nsv1041988	chr11:67319916-67749246	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	nsv897814	chr11:67339949-67460529	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv1050463	chr11:67343421-67717338	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
11	nsv1038189	chr11:67345320-67749246	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv1047236	chr11:67345320-67764068	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
13	nsv555268	chr11:67346743-67752972	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
14	nsv1036101	chr11:67346813-67828351	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
15	nsv541079	chr11:67346813-67828351	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
16	nsv897815	chr11:67347595-67408791	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv1053811	chr11:67349444-67749246	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
18	esv1817852	chr11:67349899-67626567	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
19	nsv468606	chr11:67352689-67816936	Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
20	nsv555269	chr11:67352689-67816936	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
21	nsv897816	chr11:67353579-67460529	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67351800-67353800	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
2	chr11:67351800-67354000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:67351800-67354400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:67351800-67358600	Weak transcription	Primary T cells from cord blood	blood
5	chr11:67352000-67353800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
6	chr11:67352000-67354000	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:67352000-67354000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
8	chr11:67352000-67354000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:67352000-67354000	Transcr. at gene 5' and 3'	A549	lung
10	chr11:67352000-67354200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:67352200-67353800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:67352200-67353800	Genic enhancers	Placenta Amnion	Placenta Amnion
13	chr11:67352200-67353800	Transcr. at gene 5' and 3'	NHEK	skin
14	chr11:67352200-67354200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
15	chr11:67352200-67354400	Weak transcription	Psoas Muscle	Psoas
16	chr11:67352200-67354600	Transcr. at gene 5' and 3'	K562	blood
17	chr11:67352200-67354800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:67352200-67354800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
19	chr11:67352200-67355600	Enhancers	Primary B cells from cord blood	blood
20	chr11:67352400-67353800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:67352400-67354000	Weak transcription	Fetal Kidney	kidney
22	chr11:67352400-67354000	Genic enhancers	Pancreas	Pancrea
23	chr11:67352400-67354200	Genic enhancers	Fetal Muscle Trunk	muscle
24	chr11:67352400-67354200	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr11:67352400-67354400	Genic enhancers	Primary monocytes fromperipheralblood	blood
26	chr11:67352400-67354600	Genic enhancers	Fetal Muscle Leg	muscle
27	chr11:67352400-67356200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:67352600-67353800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:67352600-67353800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:67352600-67353800	Genic enhancers	Placenta	Placenta
31	chr11:67352600-67354000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
32	chr11:67352600-67354200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:67352600-67354200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
34	chr11:67352600-67354400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
35	chr11:67352600-67354600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:67352600-67354800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr11:67352600-67358400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:67352600-67359800	Weak transcription	Right Atrium	heart
39	chr11:67352600-67360200	Weak transcription	Brain Angular Gyrus	brain
40	chr11:67352800-67354000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:67352800-67354000	Genic enhancers	Brain Germinal Matrix	brain
42	chr11:67352800-67354000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:67352800-67354600	Strong transcription	Colonic Mucosa	Colon
44	chr11:67352800-67354600	Strong transcription	Right Ventricle	heart
45	chr11:67352800-67354600	Genic enhancers	Spleen	Spleen
46	chr11:67352800-67355800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:67352800-67355800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:67352800-67357000	Weak transcription	NHDF-Ad	bronchial
49	chr11:67353000-67353800	Weak transcription	Brain Substantia Nigra	brain
50	chr11:67353000-67353800	Genic enhancers	Stomach Mucosa	stomach

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