Variant report

Variant	rs1008629
Chromosome Location	chr14:105720454-105720455
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:105720287-105720493	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:105720038-105720510	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:105719778-105720572	GM12892	blood:	n/a	n/a
4	POLR2A	chr14:105720439-105720470	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr14:105720330-105720482	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105718698..105721537-chr14:105739124..105741867,2	MCF-7	breast:
2	chr14:105718161..105724247-chr14:105765636..105769156,6	MCF-7	breast:

Variant related genes	Relation type
BRF1	TF binding region
ENSG00000185024	Chromatin interaction
ENSG00000179364	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs4270098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45527637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4572314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56776600	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58705971	1.00[EUR][1000 genomes]
rs67308076	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67426629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67502922	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67579680	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67936859	1.00[EUR][1000 genomes]
rs7144338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7149185	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709737	1.00[EUR][1000 genomes]
rs72711555	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711562	0.95[EUR][1000 genomes]
rs72711563	0.95[EUR][1000 genomes]
rs72711565	0.95[EUR][1000 genomes]
rs72711566	0.95[EUR][1000 genomes]
rs72711567	0.95[EUR][1000 genomes]
rs72711569	0.95[EUR][1000 genomes]
rs73353763	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73353774	0.83[EUR][1000 genomes]
rs8015997	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8016364	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
4	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv1052190	chr14:105423761-105722653	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription 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	88 gene(s)	inside rSNPs	diseases
8	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
9	esv2758369	chr14:105513346-105803170	Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	esv2760014	chr14:105513346-105803170	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
11	nsv902441	chr14:105602619-105803170	Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv902442	chr14:105602619-105803170	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	esv1817919	chr14:105605199-105803170	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
14	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
15	nsv902460	chr14:105646179-105731255	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS 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	12 gene(s)	inside rSNPs	diseases
16	nsv510651	chr14:105656882-105725155	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv566186	chr14:105675701-105779305	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv902466	chr14:105704465-105803170	Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	esv29986	chr14:105707292-105803170	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	nsv902468	chr14:105712091-105721808	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv832887	chr14:105717339-105803170	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	nsv832888	chr14:105717339-105803170	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
23	nsv1049929	chr14:105718240-105772037	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
24	nsv1052355	chr14:105718240-105789157	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105690400-105721400	Weak transcription	K562	blood
2	chr14:105715600-105723600	Weak transcription	Small Intestine	intestine
3	chr14:105715600-105749400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:105715800-105721400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr14:105715800-105721600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:105715800-105766000	Weak transcription	Fetal Kidney	kidney
7	chr14:105716000-105720600	Strong transcription	Liver	Liver
8	chr14:105716000-105720600	Strong transcription	Brain Inferior Temporal Lobe	brain
9	chr14:105716000-105721200	Weak transcription	Psoas Muscle	Psoas
10	chr14:105716000-105721800	Strong transcription	Fetal Intestine Large	intestine
11	chr14:105716000-105732400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr14:105716200-105720600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:105716200-105720600	Strong transcription	NHLF	lung
14	chr14:105716200-105720800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:105716200-105720800	Strong transcription	Colon Smooth Muscle	Colon
16	chr14:105716200-105723400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:105716200-105724000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:105716200-105724000	Strong transcription	Thymus	Thymus
19	chr14:105716200-105724000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr14:105716200-105731200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:105716200-105734000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:105716400-105720600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:105716400-105723400	Strong transcription	Fetal Intestine Small	intestine
24	chr14:105716400-105724400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr14:105716400-105730600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:105716400-105747800	Weak transcription	Hela-S3	cervix
27	chr14:105716600-105720600	Strong transcription	Esophagus	oesophagus
28	chr14:105716600-105723000	Strong transcription	Fetal Brain Female	brain
29	chr14:105716600-105723600	Strong transcription	Primary T cells from cord blood	blood
30	chr14:105716600-105724200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:105716800-105720800	Strong transcription	Spleen	Spleen
32	chr14:105717000-105720600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:105717000-105720600	Strong transcription	Brain Germinal Matrix	brain
34	chr14:105717000-105720600	Strong transcription	Stomach Smooth Muscle	stomach
35	chr14:105717000-105720800	Strong transcription	Placenta	Placenta
36	chr14:105717000-105724000	Strong transcription	Lung	lung
37	chr14:105717000-105725400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:105717200-105721400	Weak transcription	A549	lung
39	chr14:105717400-105739600	Strong transcription	Fetal Stomach	stomach
40	chr14:105717600-105723600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr14:105717600-105723600	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr14:105717800-105720600	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr14:105717800-105721200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:105717800-105721200	Weak transcription	HSMMtube	muscle
45	chr14:105717800-105723400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr14:105718000-105720600	Strong transcription	Adipose Nuclei	Adipose
47	chr14:105718000-105723400	Weak transcription	Stomach Mucosa	stomach
48	chr14:105718000-105724200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:105718200-105720600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:105718200-105720600	Strong transcription	HSMM	muscle

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