Variant report

Variant	rs8007903
Chromosome Location	chr14:104137643-104137644
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	chr14:104137532-104137739	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104135858..104138400-chr14:104181614..104183582,2	K562	blood:
2	chr14:104136832..104139230-chr14:104141044..104143679,3	MCF-7	breast:

Variant related genes	Relation type
KLC1	TF binding region
ENSG00000126214	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000100711	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10131067	0.92[ASN][1000 genomes]
rs11160755	0.86[JPT][hapmap];0.86[MEX][hapmap]
rs11160756	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs1125415	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11850979	1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap]
rs12432907	1.00[CEU][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12432994	1.00[CEU][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12434218	0.90[JPT][hapmap]
rs12436795	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12586322	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12881418	1.00[CEU][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12889869	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1799794	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs3212103	1.00[CEU][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3212136	1.00[CEU][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35140615	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35469050	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35686878	0.81[ASN][1000 genomes]
rs3742465	1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap]
rs3759586	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4561394	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4900583	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4900584	0.83[ASN][1000 genomes]
rs4900587	1.00[CEU][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4900589	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs4906349	0.82[ASN][1000 genomes]
rs4906352	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4906355	0.84[ASN][1000 genomes]
rs4906358	0.84[ASN][1000 genomes]
rs4906359	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55647815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59021304	0.89[EUR][1000 genomes]
rs61436277	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7154572	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7156832	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs729437	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs745079	0.86[JPT][hapmap]
rs8003289	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs8007489	0.91[JPT][hapmap]
rs8007915	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs8008451	1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap]
rs8018214	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8021368	0.86[JPT][hapmap]
rs861530	0.81[CHB][hapmap]
rs861537	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs861544	0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs861545	0.86[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs861547	0.86[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs8702	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv542203	chr14:104113463-104143782	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	esv2543794	chr14:104136357-104138244	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	esv2001728	chr14:104136705-104138077	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	esv3530748	chr14:104136774-104138032	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv3530749	chr14:104136774-104138032	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8007903	BAG5	Cis_1M	lymphoblastoid	RTeQTL
rs8007903	BRF1	cis	parietal	SCAN
rs8007903	ZFYVE21	cis	lymphoblastoid	seeQTL
rs8007903	XRCC3	cis	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104097400-104156600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:104117800-104157000	Strong transcription	Dnd41	blood
3	chr14:104117800-104176000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:104118800-104175600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:104119200-104145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:104119200-104155600	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr14:104119200-104173000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:104119400-104145000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:104119400-104147800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:104119400-104157000	Strong transcription	Fetal Thymus	thymus
11	chr14:104119400-104161800	Strong transcription	Fetal Intestine Small	intestine
12	chr14:104119400-104164600	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr14:104119400-104175200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr14:104120000-104145600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr14:104120000-104177000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:104120200-104149800	Strong transcription	Fetal Muscle Leg	muscle
17	chr14:104120200-104155000	Strong transcription	Fetal Brain Female	brain
18	chr14:104120200-104161400	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:104120200-104161800	Strong transcription	Fetal Intestine Large	intestine
20	chr14:104120400-104150000	Strong transcription	Fetal Muscle Trunk	muscle
21	chr14:104120400-104157000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:104120400-104157000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr14:104120400-104161200	Strong transcription	Fetal Stomach	stomach
24	chr14:104120600-104143200	Strong transcription	Left Ventricle	heart
25	chr14:104120600-104155000	Strong transcription	Brain Germinal Matrix	brain
26	chr14:104120800-104157200	Strong transcription	Thymus	Thymus
27	chr14:104121000-104154200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:104121000-104154800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:104121000-104162000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:104122800-104153000	Strong transcription	Liver	Liver
31	chr14:104123400-104144600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr14:104123400-104155200	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr14:104124600-104147800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:104124600-104169800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr14:104124600-104169800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr14:104125200-104155400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:104126400-104140800	Weak transcription	Stomach Mucosa	stomach
38	chr14:104128000-104138400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:104129200-104138200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr14:104129200-104142400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:104130200-104143000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:104130400-104142400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:104130400-104145000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:104130400-104147800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:104130400-104153000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:104130600-104145200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr14:104130600-104149800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:104130600-104150400	Strong transcription	Adipose Nuclei	Adipose
49	chr14:104130600-104159600	Strong transcription	Duodenum Mucosa	Duodenum
50	chr14:104130800-104155600	Strong transcription	Placenta Amnion	Placenta Amnion

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