Variant report

Variant	rs412894
Chromosome Location	chr6:149781175-149781176
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	CEBPB	chr6:149781031-149781331	IMR90	lung:	n/a	n/a
2	FOS	chr6:149781053-149781200	MCF10A-Er-Src	breast:	n/a	n/a
3	RCOR1	chr6:149780534-149781448	IMR90	lung:	n/a	n/a
4	MAFK	chr6:149780898-149781227	IMR90	lung:	n/a	n/a
5	BHLHE40	chr6:149781060-149781226	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149779659..149781916-chr6:149782862..149785427,2	K562	blood:

Variant related genes	Relation type
ZC3H12D	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11155641	0.80[AFR][1000 genomes]
rs11155644	0.84[AFR][1000 genomes]
rs237003	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs237009	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs237010	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs237024	0.84[AFR][1000 genomes]
rs372238	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs384334	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs394563	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs399673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs400279	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs409099	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs409111	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs415434	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs420099	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs420430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs421453	0.87[ASN][1000 genomes]
rs438852	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs444784	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs447025	0.89[ASN][1000 genomes]
rs448420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs448874	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs480870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548848	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv470866	chr6:149744632-149806552	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv5533	chr6:149748047-149793072	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv464076	chr6:149755695-149798835	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv604846	chr6:149755695-149798835	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149769600-149782800	Strong transcription	Primary B cells from peripheral blood	blood
2	chr6:149769600-149787200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:149770000-149785200	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr6:149772000-149788800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr6:149772600-149787000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:149773000-149783400	Strong transcription	Primary B cells from cord blood	blood
7	chr6:149776200-149785200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:149776200-149789600	Weak transcription	Fetal Thymus	thymus
9	chr6:149776400-149784400	Weak transcription	Small Intestine	intestine
10	chr6:149776400-149784800	Weak transcription	HepG2	liver
11	chr6:149776400-149785200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr6:149776400-149785400	Weak transcription	HSMMtube	muscle
13	chr6:149776600-149781600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr6:149776600-149785200	Weak transcription	Colonic Mucosa	Colon
15	chr6:149776800-149782600	Weak transcription	Stomach Mucosa	stomach
16	chr6:149776800-149785200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:149776800-149785200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr6:149776800-149785200	Weak transcription	Hela-S3	cervix
19	chr6:149776800-149785400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:149776800-149802000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:149778000-149781400	Strong transcription	GM12878-XiMat	blood
22	chr6:149778000-149783400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr6:149778200-149781600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
24	chr6:149778200-149783600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr6:149778400-149783000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:149778400-149785400	Weak transcription	Gastric	stomach
27	chr6:149778400-149787200	Weak transcription	Spleen	Spleen
28	chr6:149778800-149781200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr6:149779000-149784800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:149779400-149781800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr6:149779600-149781200	Strong transcription	Primary hematopoietic stem cells	blood
32	chr6:149779600-149783200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr6:149779800-149781400	Weak transcription	Fetal Lung	lung
34	chr6:149779800-149782200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:149780000-149785200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:149780000-149785800	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr6:149780600-149781200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:149780600-149781400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:149780600-149781400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr6:149780600-149781400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:149780600-149781400	Enhancers	Osteobl	bone
42	chr6:149780600-149781800	Strong transcription	Fetal Intestine Small	intestine
43	chr6:149780800-149781400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:149780800-149781400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:149780800-149781400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
46	chr6:149780800-149781400	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr6:149780800-149781400	Enhancers	NHLF	lung
48	chr6:149780800-149781600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr6:149780800-149781600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:149780800-149793400	Weak transcription	Primary T cells from cord blood	blood

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