Variant report

Variant	rs10872847
Chromosome Location	chr14:31400618-31400619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31398507..31401730-chr14:31402844..31406226,4	K562	blood:
2	chr14:31400245..31402113-chr14:31403843..31406707,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196792	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1121875	1.00[YRI][hapmap]
rs11625404	1.00[YRI][hapmap]
rs12896702	1.00[AFR][1000 genomes]
rs1474801	1.00[YRI][hapmap]
rs179697	1.00[YRI][hapmap]
rs2024661	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2179933	1.00[YRI][hapmap]
rs2378814	1.00[YRI][hapmap]
rs4354834	1.00[YRI][hapmap]
rs4981800	1.00[YRI][hapmap]
rs6571368	0.83[AFR][1000 genomes]
rs6571371	1.00[YRI][hapmap]
rs7150937	1.00[YRI][hapmap]
rs7156647	1.00[YRI][hapmap]
rs7350756	1.00[YRI][hapmap]
rs8011685	1.00[YRI][hapmap]
rs8020670	1.00[YRI][hapmap]
rs9671708	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv832762	chr14:31238634-31414038	Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv564173	chr14:31358377-31400682	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv901584	chr14:31358377-31409010	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv564174	chr14:31365884-31400682	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv564175	chr14:31365884-31409010	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv564176	chr14:31365884-31413492	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv901585	chr14:31365884-31433473	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv564177	chr14:31381351-31425437	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv456197	chr14:31386426-31417816	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv564178	chr14:31386426-31417816	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1849623	chr14:31392438-31402955	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1820448	chr14:31392737-31403596	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv1844245	chr14:31392890-31403155	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3394122	chr14:31400408-31400773	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31355800-31414400	Weak transcription	Spleen	Spleen
3	chr14:31356200-31412800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:31358000-31428200	Weak transcription	Small Intestine	intestine
5	chr14:31360200-31435600	Weak transcription	Gastric	stomach
6	chr14:31362200-31414400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:31362400-31435400	Weak transcription	Colonic Mucosa	Colon
8	chr14:31363000-31430600	Weak transcription	Brain Angular Gyrus	brain
9	chr14:31363000-31435200	Weak transcription	Esophagus	oesophagus
10	chr14:31364400-31415400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:31365800-31402200	Weak transcription	Thymus	Thymus
12	chr14:31365800-31414200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:31365800-31435600	Weak transcription	Right Ventricle	heart
14	chr14:31370000-31414400	Weak transcription	Pancreas	Pancrea
15	chr14:31372400-31414400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:31376200-31403000	Weak transcription	Hela-S3	cervix
17	chr14:31377800-31435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:31378000-31414400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:31378000-31439000	Weak transcription	Psoas Muscle	Psoas
20	chr14:31378800-31435200	Weak transcription	Aorta	Aorta
21	chr14:31378800-31435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:31379000-31413800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:31379400-31404200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:31379600-31402800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr14:31379600-31403400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:31379600-31404000	Weak transcription	Colon Smooth Muscle	Colon
27	chr14:31379600-31405000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:31379800-31403600	Weak transcription	Fetal Heart	heart
29	chr14:31379800-31412400	Weak transcription	Brain Hippocampus Middle	brain
30	chr14:31380400-31415400	Weak transcription	Brain Germinal Matrix	brain
31	chr14:31380600-31402600	Weak transcription	HMEC	breast
32	chr14:31380800-31403200	Weak transcription	Fetal Muscle Leg	muscle
33	chr14:31380800-31405800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:31381200-31414400	Weak transcription	Fetal Brain Female	brain
35	chr14:31381400-31402200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr14:31381400-31402200	Weak transcription	Fetal Thymus	thymus
37	chr14:31381400-31402200	Weak transcription	Left Ventricle	heart
38	chr14:31381400-31402200	Weak transcription	Ovary	ovary
39	chr14:31381400-31403200	Weak transcription	Primary T cells from cord blood	blood
40	chr14:31381400-31403200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:31381400-31403200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:31381400-31403200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr14:31381400-31403200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr14:31381400-31403800	Weak transcription	HSMMtube	muscle
45	chr14:31381400-31404400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:31381400-31404600	Weak transcription	Brain Anterior Caudate	brain
47	chr14:31381400-31414600	Weak transcription	NHLF	lung
48	chr14:31381400-31416600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr14:31381600-31402200	Weak transcription	Placenta	Placenta
50	chr14:31381600-31403200	Weak transcription	HSMM	muscle

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