Variant report

Variant	rs34404014
Chromosome Location	chr11:67067075-67067076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67066586-67067477	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:67066997-67067180	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:67066971-67067229	K562	blood:	n/a	n/a
4	POLR2A	chr11:67066652-67067130	GM12891	blood:	n/a	n/a
5	POLR2A	chr11:67066888-67067273	K562	blood:	n/a	n/a
6	POLR2A	chr11:67066989-67067305	MCF-7	breast:	n/a	n/a
7	POLR2A	chr11:67067029-67067149	MCF-7	breast:	n/a	n/a
8	POLR2A	chr11:67066777-67067270	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:67066711-67067263	GM12892	blood:	n/a	n/a
10	POLR2A	chr11:67066666-67067646	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:67066935-67067123	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:67066339-67071400	HL-60	blood:	n/a	n/a
13	POLR2A	chr11:67066799-67067271	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:67066539-67067724	GM12892	blood:	n/a	n/a
15	POLR2A	chr11:67066765-67067315	K562	blood:	n/a	n/a
16	POLR2A	chr11:67066214-67071965	HL-60	blood:	n/a	n/a
17	POLR2A	chr11:67066798-67067153	GM12891	blood:	n/a	n/a
18	POLR2A	chr11:67066735-67071495	NB4	blood:	n/a	n/a
19	POLR2A	chr11:67066531-67067406	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67054455..67063331-chr11:67064649..67075279,24	K562	blood:
2	chr11:67041964..67046049-chr11:67065840..67069328,4	K562	blood:
3	chr10:64892666..64893450-chr11:67066915..67067727,2	NB4	blood:
4	chr11:67066845..67067640-chr14:91976478..91977300,2	NB4	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SSH3-2	chr11:67065362-67067092	NONHSAT022390

No data

Variant related genes	Relation type
ANKRD13D	TF binding region
SSH3	TF binding region
ENSG00000172932	Chromatin interaction
ENSG00000148572	Chromatin interaction
ENSG00000173020	Chromatin interaction
ENSG00000100796	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1051180	1.00[CHD][hapmap]
rs11827571	1.00[CHD][hapmap]
rs17878505	1.00[CHD][hapmap]
rs17885026	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	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
8	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
9	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS 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 target site	85 gene(s)	inside rSNPs	diseases
10	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
11	nsv897802	chr11:67051245-67075024	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
13	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
14	nsv897803	chr11:67067075-67084761	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67057600-67069200	Weak transcription	Psoas Muscle	Psoas
2	chr11:67058600-67069200	Weak transcription	Fetal Heart	heart
3	chr11:67059800-67067800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:67060000-67068000	Strong transcription	Fetal Muscle Trunk	muscle
5	chr11:67060000-67069400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:67060000-67069600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:67061200-67069000	Strong transcription	Osteobl	bone
8	chr11:67061200-67069800	Weak transcription	Small Intestine	intestine
9	chr11:67061400-67069000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:67062000-67069000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:67062200-67070400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:67063200-67067800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:67063600-67069200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:67063600-67069200	Weak transcription	Fetal Brain Male	brain
15	chr11:67063600-67069400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:67063800-67068000	Strong transcription	Fetal Muscle Leg	muscle
17	chr11:67063800-67069400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:67063800-67069800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:67063800-67070000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:67063800-67070000	Weak transcription	Fetal Kidney	kidney
21	chr11:67063800-67070400	Strong transcription	Dnd41	blood
22	chr11:67064000-67068200	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr11:67064000-67068600	Weak transcription	HUVEC	blood vessel
24	chr11:67064000-67068800	Weak transcription	Hela-S3	cervix
25	chr11:67064000-67069200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:67064000-67069200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:67064000-67069200	Strong transcription	Fetal Intestine Large	intestine
28	chr11:67064200-67067800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:67064200-67069800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:67064400-67067200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:67064400-67068400	Strong transcription	HMEC	breast
32	chr11:67064400-67068800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr11:67064400-67069000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:67064400-67069000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:67064400-67069000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:67064400-67069000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:67064400-67069200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:67064400-67069400	Strong transcription	Fetal Stomach	stomach
39	chr11:67064400-67069800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:67064400-67069800	Strong transcription	Fetal Thymus	thymus
41	chr11:67064400-67070400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr11:67064600-67069400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:67064600-67069800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:67064800-67069800	Weak transcription	NH-A	brain
45	chr11:67065200-67068200	Strong transcription	Placenta	Placenta
46	chr11:67065400-67069200	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr11:67065400-67069200	Strong transcription	Primary B cells from cord blood	blood
48	chr11:67065400-67069400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:67065600-67069000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr11:67065600-67069200	Strong transcription	Brain Inferior Temporal Lobe	brain

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