Variant report

Variant	rs11814231
Chromosome Location	chr10:52354629-52354630
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr10:52354617-52354756	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:52342133..52345402-chr10:52352257..52355042,3	MCF-7	breast:
2	chr10:52354228..52356242-chr10:52382515..52384721,2	K562	blood:
3	chr10:52351092..52355625-chr10:52355822..52361152,8	K562	blood:
4	chr10:52353568..52355701-chr10:52365329..52367355,2	MCF-7	breast:
5	chr10:52352956..52355914-chr10:52362254..52364953,3	K562	blood:
6	chr10:52312834..52315276-chr10:52353928..52355843,2	K562	blood:
7	chr10:52352876..52355415-chr10:52360770..52364645,3	K562	blood:
8	chr10:52353683..52355728-chr10:52382451..52384015,2	K562	blood:

No data

Variant related genes	Relation type
RNU7-107P	TF binding region
ENSG00000226200	Chromatin interaction
ENSG00000198964	Chromatin interaction
ENSG00000230036	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10159614	1.00[YRI][hapmap]
rs11006152	1.00[EUR][1000 genomes]
rs12262002	1.00[YRI][hapmap]
rs16934269	1.00[EUR][1000 genomes]
rs16934373	1.00[EUR][1000 genomes]
rs3011793	1.00[YRI][hapmap]
rs41417550	1.00[EUR][1000 genomes]
rs58675275	1.00[EUR][1000 genomes]
rs59273165	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60757498	1.00[EUR][1000 genomes]
rs7100732	1.00[EUR][1000 genomes]
rs73318725	1.00[EUR][1000 genomes]
rs73318727	1.00[EUR][1000 genomes]
rs73318732	1.00[EUR][1000 genomes]
rs73318734	1.00[EUR][1000 genomes]
rs73318745	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74131296	1.00[EUR][1000 genomes]
rs7900063	1.00[EUR][1000 genomes]
rs7921654	1.00[EUR][1000 genomes]
rs7922659	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52336800-52363000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr10:52338000-52356400	Weak transcription	Fetal Brain Female	brain
3	chr10:52338000-52363800	Weak transcription	Fetal Kidney	kidney
4	chr10:52338000-52367000	Weak transcription	Aorta	Aorta
5	chr10:52340400-52360200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:52341200-52373000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr10:52341400-52355400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:52341400-52360200	Weak transcription	GM12878-XiMat	blood
9	chr10:52341800-52355000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:52341800-52362000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr10:52342600-52356400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr10:52342800-52360200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr10:52343400-52360600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr10:52343600-52356200	Weak transcription	Stomach Mucosa	stomach
15	chr10:52343600-52362200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:52343800-52360000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr10:52346000-52355400	Weak transcription	Colon Smooth Muscle	Colon
18	chr10:52346400-52358600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr10:52346600-52355400	Weak transcription	Psoas Muscle	Psoas
20	chr10:52346600-52363400	Weak transcription	Adipose Nuclei	Adipose
21	chr10:52346600-52363800	Weak transcription	Spleen	Spleen
22	chr10:52346800-52360600	Weak transcription	HUVEC	blood vessel
23	chr10:52347000-52359600	Weak transcription	A549	lung
24	chr10:52348000-52363400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr10:52348200-52358400	Weak transcription	HepG2	liver
26	chr10:52348200-52360000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr10:52348400-52363000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr10:52349000-52363200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr10:52349200-52360400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr10:52349200-52363200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr10:52349400-52358600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr10:52349400-52363000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr10:52349400-52363000	Weak transcription	Lung	lung
34	chr10:52349600-52355000	Weak transcription	Gastric	stomach
35	chr10:52349600-52355000	Weak transcription	Ovary	ovary
36	chr10:52349600-52358400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr10:52349600-52359200	Weak transcription	Placenta	Placenta
38	chr10:52349600-52360000	Weak transcription	Fetal Intestine Large	intestine
39	chr10:52349600-52360200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr10:52349600-52360200	Weak transcription	Fetal Intestine Small	intestine
41	chr10:52349600-52360200	Weak transcription	Fetal Muscle Leg	muscle
42	chr10:52349600-52360200	Weak transcription	Fetal Thymus	thymus
43	chr10:52349600-52360600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr10:52349600-52360600	Weak transcription	Thymus	Thymus
45	chr10:52349600-52361800	Weak transcription	Esophagus	oesophagus
46	chr10:52349600-52363600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr10:52349600-52364000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr10:52349600-52364800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr10:52349800-52356400	Weak transcription	Liver	Liver
50	chr10:52349800-52362600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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