Variant report

Variant	rs60691447
Chromosome Location	chr6:44057670-44057671
allele	C/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	ZKSCAN1	chr6:44057549-44057839	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr6:44056487-44058321	K562	blood:	n/a	n/a
3	POLR2A	chr6:44056542-44058437	Hela-S3	cervix:	n/a	n/a
4	ZNF263	chr6:44057412-44058117	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:44040495..44042700-chr6:44055821..44057827,2	K562	blood:
2	chr6:44055370..44058215-chr6:44094927..44096529,2	K562	blood:
3	chr6:44055370..44058215-chr6:44094460..44096529,3	K562	blood:

Variant related genes	Relation type
ENSG00000183239	TF binding region
ENSG00000231881	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000237686	Chromatin interaction
ENSG00000180992	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10428726	0.96[ASN][1000 genomes]
rs10807295	0.96[ASN][1000 genomes]
rs10948122	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948123	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948125	0.96[ASN][1000 genomes]
rs10948126	0.96[ASN][1000 genomes]
rs11966587	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11967633	0.96[ASN][1000 genomes]
rs11968386	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12525049	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12526662	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12664793	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2096200	0.96[ASN][1000 genomes]
rs35738079	0.90[ASN][1000 genomes]
rs41282654	0.93[ASN][1000 genomes]
rs4711765	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714744	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714749	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55862642	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59028814	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60245793	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912142	0.90[ASN][1000 genomes]
rs700006	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713050	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73733834	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7738970	0.96[ASN][1000 genomes]
rs7771710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv981140	chr6:44055862-44060195	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44044200-44067000	Weak transcription	NHDF-Ad	bronchial
2	chr6:44044600-44067600	Weak transcription	Spleen	Spleen
3	chr6:44044800-44062200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:44044800-44067000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:44044800-44067400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr6:44044800-44070200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:44044800-44071400	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:44045000-44067400	Weak transcription	Brain Anterior Caudate	brain
9	chr6:44045000-44071800	Weak transcription	Aorta	Aorta
10	chr6:44045600-44067000	Weak transcription	Fetal Brain Female	brain
11	chr6:44047000-44066600	Weak transcription	Thymus	Thymus
12	chr6:44047400-44059000	Weak transcription	Fetal Brain Male	brain
13	chr6:44047400-44061600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:44047400-44061800	Weak transcription	Brain Angular Gyrus	brain
15	chr6:44047400-44062000	Weak transcription	Brain Germinal Matrix	brain
16	chr6:44047400-44062000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr6:44047400-44067200	Weak transcription	Dnd41	blood
18	chr6:44047400-44067400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:44047400-44067600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr6:44047400-44069200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:44047400-44071400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr6:44048800-44060800	Weak transcription	NHLF	lung
23	chr6:44049200-44062000	Weak transcription	Ovary	ovary
24	chr6:44049400-44061800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:44049400-44061800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:44049400-44067000	Weak transcription	GM12878-XiMat	blood
27	chr6:44049800-44061800	Weak transcription	Fetal Thymus	thymus
28	chr6:44051600-44067400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:44052600-44067000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:44052600-44071000	Weak transcription	HSMMtube	muscle
31	chr6:44052800-44061600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr6:44052800-44067000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr6:44052800-44067400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:44052800-44071000	Weak transcription	Placenta	Placenta
35	chr6:44052800-44071800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:44053000-44067000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr6:44053000-44067000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr6:44053000-44070400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:44053200-44061600	Weak transcription	NHEK	skin
40	chr6:44054800-44067400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr6:44055000-44061600	Weak transcription	Adipose Nuclei	Adipose
42	chr6:44055000-44068000	Weak transcription	Esophagus	oesophagus
43	chr6:44055200-44060200	Weak transcription	Stomach Mucosa	stomach
44	chr6:44055200-44061600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr6:44055200-44061800	Weak transcription	Right Ventricle	heart
46	chr6:44055200-44064400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:44055200-44064600	Strong transcription	Fetal Stomach	stomach
48	chr6:44055200-44067600	Weak transcription	Fetal Lung	lung
49	chr6:44055200-44068000	Weak transcription	Gastric	stomach
50	chr6:44055200-44068000	Weak transcription	Right Atrium	heart

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