Variant report

Variant	rs11814710
Chromosome Location	chr10:52387955-52387956
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr10:52387102-52388125	T-47D	breast:	n/a	chr10:52387826-52387833
2	EP300	chr10:52387088-52388077	T-47D	breast:	n/a	n/a
3	CTCF	chr10:52387940-52388090	HPAF	blood vessel:	n/a	n/a
4	GATA3	chr10:52387626-52388099	T-47D	breast:	n/a	chr10:52387826-52387833
5	CTCF	chr10:52387940-52388090	HA-sp	spinal cord:	n/a	n/a
6	FOXA1	chr10:52387690-52387958	T-47D	breast:	n/a	n/a
7	FOXA1	chr10:52387682-52387977	T-47D	breast:	n/a	n/a
8	ESR1	chr10:52387128-52388044	T-47D	breast:	n/a	n/a
9	CTCF	chr10:52387940-52388090	AG04450	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:52387639..52388491-chr10:52412779..52413486,3	MCF-7	breast:
2	chr10:52359260..52360848-chr10:52387112..52388927,2	K562	blood:
3	chr10:52324162..52326524-chr10:52386788..52388541,2	K562	blood:
4	chr10:52336198..52337725-chr10:52386422..52388764,2	K562	blood:
5	chr10:52385910..52390098-chr10:52396807..52399699,3	MCF-7	breast:

No data

Variant related genes	Relation type
SGMS1	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7100732	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv469522	chr10:52276564-52447589	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv482564	chr10:52276564-52447589	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52385400-52392400	Weak transcription	Lung	lung
2	chr10:52385600-52389200	Weak transcription	Ovary	ovary
3	chr10:52385600-52392200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:52385600-52392200	Weak transcription	Left Ventricle	heart
5	chr10:52385600-52392400	Weak transcription	Gastric	stomach
6	chr10:52385600-52393000	Weak transcription	Pancreas	Pancrea
7	chr10:52385600-52393600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr10:52385600-52395200	Weak transcription	Esophagus	oesophagus
9	chr10:52385800-52388400	Weak transcription	Adipose Nuclei	Adipose
10	chr10:52385800-52388400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr10:52385800-52388400	Weak transcription	Right Ventricle	heart
12	chr10:52385800-52389200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr10:52385800-52389400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr10:52385800-52389400	Weak transcription	Brain Anterior Caudate	brain
15	chr10:52385800-52389400	Weak transcription	Brain Hippocampus Middle	brain
16	chr10:52385800-52391000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr10:52385800-52391600	Weak transcription	Brain Angular Gyrus	brain
18	chr10:52385800-52392800	Weak transcription	Aorta	Aorta
19	chr10:52385800-52394800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr10:52385800-52395000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr10:52385800-52396000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr10:52385800-52396800	Weak transcription	Fetal Brain Male	brain
23	chr10:52385800-52397000	Weak transcription	Psoas Muscle	Psoas
24	chr10:52385800-52397000	Weak transcription	Small Intestine	intestine
25	chr10:52386000-52388000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:52386000-52388200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr10:52386000-52388200	Weak transcription	Brain Germinal Matrix	brain
28	chr10:52386000-52388400	Weak transcription	Brain Substantia Nigra	brain
29	chr10:52386000-52388600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr10:52386000-52388600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr10:52386000-52389000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr10:52386000-52389200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr10:52386000-52389200	Weak transcription	GM12878-XiMat	blood
34	chr10:52386000-52389400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr10:52386000-52389400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:52386000-52389400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr10:52386000-52389400	Weak transcription	Fetal Muscle Leg	muscle
38	chr10:52386000-52389600	Weak transcription	Fetal Intestine Large	intestine
39	chr10:52386000-52390000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr10:52386000-52390200	Weak transcription	NHEK	skin
41	chr10:52386000-52390400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr10:52386000-52390600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr10:52386000-52391600	Weak transcription	Fetal Kidney	kidney
44	chr10:52386000-52391600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr10:52386000-52392200	Weak transcription	Fetal Stomach	stomach
46	chr10:52386000-52392200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr10:52386000-52392400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr10:52386000-52392400	Weak transcription	Fetal Intestine Small	intestine
49	chr10:52386000-52393400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr10:52386000-52394600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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