Variant report

Variant	rs3212072
Chromosome Location	chr14:104171198-104171199
allele	A/G
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	chr14:104171186-104171386	GM12891	blood:	n/a	n/a
2	POLR2A	chr14:104170824-104171438	U87	brain:	n/a	n/a
3	POLR2A	chr14:104171138-104174879	K562	blood:	n/a	n/a
4	POLR2A	chr14:104171092-104171719	GM12891	blood:	n/a	n/a
5	MAX	chr14:104171074-104172299	MCF-7	breast:	n/a	chr14:104171304-104171313 chr14:104171767-104171777
6	POLR2A	chr14:104171085-104171705	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr14:104171093-104171642	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr14:104168207-104172054	GM12891	blood:	n/a	n/a
9	POLR2A	chr14:104171150-104171488	GM12892	blood:	n/a	n/a
10	POLR2A	chr14:104171124-104176699	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr14:104170884-104171809	GM12892	blood:	n/a	n/a
12	POLR2A	chr14:104171144-104172342	MCF-7	breast:	n/a	n/a
13	POLR2A	chr14:104171111-104173462	K562	blood:	n/a	n/a
14	POLR2A	chr14:104171147-104171327	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr14:104171176-104171322	A549	lung:	n/a	n/a
16	POLR2A	chr14:104171101-104172737	GM12892	blood:	n/a	n/a
17	POLR2A	chr14:104161532-104176510	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr14:104170861-104172075	U87	brain:	n/a	n/a
19	POLR2A	chr14:104158357-104176753	K562	blood:	n/a	n/a
20	POLR2A	chr14:104171152-104172659	GM12878	blood:	n/a	n/a
21	POLR2A	chr14:104171165-104171484	GM12892	blood:	n/a	n/a
22	POLR2A	chr14:104171143-104171336	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104146923..104148909-chr14:104171106..104173857,2	K562	blood:
2	chr14:104093558..104096899-chr14:104170639..104176222,7	MCF-7	breast:

Variant related genes	Relation type
XRCC3	TF binding region
ENSG00000126214	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11849022	1.00[EUR][1000 genomes]
rs17101760	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101763	0.82[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101767	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3212041	1.00[EUR][1000 genomes]
rs3212049	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3212052	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3212056	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3212058	1.00[AMR][1000 genomes]
rs3212064	1.00[EUR][1000 genomes]
rs3212066	1.00[EUR][1000 genomes]
rs3212071	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3212078	0.82[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3212086	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3212096	1.00[EUR][1000 genomes]
rs3212099	1.00[EUR][1000 genomes]
rs3212106	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3212112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3212117	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3212121	1.00[ASW][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3212133	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3742464	0.86[AFR][1000 genomes]
rs3783405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3783406	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55729369	0.82[AFR][1000 genomes]
rs58909811	1.00[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	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv456435	chr14:104061646-104198251	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv566023	chr14:104061646-104198251	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv902308	chr14:104087209-104211180	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv1041329	chr14:104097750-104196346	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv542202	chr14:104097750-104196346	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv1048866	chr14:104100862-104195896	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription 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	87 gene(s)	inside rSNPs	diseases
12	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
13	nsv1041347	chr14:104141217-104186372	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
14	nsv902309	chr14:104143385-104198251	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
15	nsv902310	chr14:104143385-104205811	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
16	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
17	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
18	nsv902311	chr14:104148339-104205811	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS 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 target site	35 gene(s)	inside rSNPs	diseases
19	nsv902312	chr14:104155317-104211180	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats 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
20	esv1796914	chr14:104159882-104181369	Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
21	nsv527425	chr14:104162263-104198251	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
22	nsv470673	chr14:104162263-104219949	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
23	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS 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 target site	48 gene(s)	inside rSNPs	diseases
24	nsv902315	chr14:104165927-104190527	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104117800-104176000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr14:104118800-104175600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:104119200-104173000	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr14:104119400-104175200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr14:104120000-104177000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr14:104133400-104177200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:104135600-104177600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:104146200-104174800	Weak transcription	K562	blood
9	chr14:104152600-104178600	Weak transcription	Small Intestine	intestine
10	chr14:104158400-104171200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:104158400-104178000	Strong transcription	Dnd41	blood
12	chr14:104158600-104176400	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr14:104159800-104176200	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr14:104161000-104176600	Genic enhancers	Spleen	Spleen
15	chr14:104161200-104180000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:104161200-104180400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr14:104162400-104172400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:104162800-104177200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:104163400-104172600	Genic enhancers	Fetal Muscle Trunk	muscle
20	chr14:104163400-104176800	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr14:104163400-104177200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:104163600-104176200	Strong transcription	Osteobl	bone
23	chr14:104163600-104177200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:104163600-104177600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:104163800-104176200	Strong transcription	Fetal Brain Female	brain
26	chr14:104164000-104171800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:104164000-104172000	Weak transcription	Fetal Kidney	kidney
28	chr14:104164000-104176000	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:104164000-104176600	Strong transcription	Brain Germinal Matrix	brain
30	chr14:104164200-104175200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:104164200-104176800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr14:104164200-104178600	Weak transcription	Fetal Heart	heart
33	chr14:104164400-104171400	Weak transcription	Hela-S3	cervix
34	chr14:104164400-104172800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:104164400-104174600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:104164400-104177400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr14:104165200-104177000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:104165400-104172400	Strong transcription	Fetal Stomach	stomach
39	chr14:104165400-104174600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr14:104165400-104177200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:104165400-104180400	Strong transcription	Thymus	Thymus
42	chr14:104165600-104171400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:104165600-104172000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:104165600-104174800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:104165800-104172800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr14:104165800-104174800	Strong transcription	NHEK	skin
47	chr14:104165800-104175000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr14:104165800-104175200	Strong transcription	Colonic Mucosa	Colon
49	chr14:104165800-104176800	Strong transcription	Fetal Thymus	thymus
50	chr14:104166800-104171400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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