Variant report

Variant	rs635149
Chromosome Location	chr6:165722603-165722604
allele	C/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	MAX	chr6:165722256-165723257	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr6:165722471-165723351	H1-hESC	embryonic stem cell:	n/a	chr6:165723168-165723181
3	E2F6	chr6:165722358-165722715	A549	lung:	n/a	chr6:165722645-165722660
4	MAX	chr6:165722235-165723305	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr6:165722535-165723262	IMR90	lung:	n/a	chr6:165723107-165723122 chr6:165723109-165723124
6	MXI1	chr6:165722586-165723269	H1-hESC	embryonic stem cell:	n/a	chr6:165723107-165723122 chr6:165723109-165723124
7	MAX	chr6:165722452-165723119	Hela-S3	cervix:	n/a	n/a
8	MXI1	chr6:165722399-165723472	SK-N-SH	brain:	n/a	chr6:165723107-165723122 chr6:165723109-165723124
9	HA-E2F1	chr6:165722465-165723210	MCF-7	breast:	n/a	chr6:165722645-165722660
10	KAP1	chr6:165722299-165723318	HEK293	kidney:	n/a	n/a
11	MAX	chr6:165722210-165723123	A549	lung:	n/a	n/a
12	MAX	chr6:165722597-165723090	A549	lung:	n/a	n/a
13	MXI1	chr6:165722600-165722785	Hela-S3	cervix:	n/a	n/a
14	E2F6	chr6:165722203-165723274	H1-hESC	embryonic stem cell:	n/a	chr6:165722645-165722660
15	E2F6	chr6:165722059-165723307	H1-hESC	embryonic stem cell:	n/a	chr6:165722645-165722660
16	ZNF263	chr6:165722354-165723251	HEK293-T-REx	kidney:	n/a	chr6:165722738-165722747 chr6:165722733-165722754 chr6:165722735-165722744 chr6:165722744-165722753 chr6:165722741-165722750 chr6:165723202-165723211
17	MAX	chr6:165722322-165723199	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
C6orf118	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1706115	0.81[JPT][hapmap]
rs1706121	0.81[JPT][hapmap]
rs1706123	0.81[JPT][hapmap]
rs479290	0.81[JPT][hapmap]
rs480275	0.81[JPT][hapmap]
rs486002	0.81[JPT][hapmap]
rs487489	0.80[JPT][hapmap]
rs491253	0.81[JPT][hapmap]
rs495725	0.81[JPT][hapmap]
rs499235	0.81[JPT][hapmap]
rs500017	0.81[JPT][hapmap]
rs502012	0.81[JPT][hapmap]
rs508041	0.81[JPT][hapmap]
rs508897	0.86[JPT][hapmap]
rs509909	0.81[JPT][hapmap]
rs518034	0.80[JPT][hapmap]
rs522241	0.81[JPT][hapmap]
rs525984	0.81[JPT][hapmap]
rs537436	0.81[JPT][hapmap]
rs546968	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs547304	0.81[JPT][hapmap]
rs550108	0.81[JPT][hapmap]
rs554575	0.81[JPT][hapmap]
rs557916	0.81[JPT][hapmap]
rs572280	0.81[JPT][hapmap]
rs574295	0.81[JPT][hapmap]
rs575669	0.81[JPT][hapmap]
rs580810	0.81[JPT][hapmap]
rs620670	0.82[CHD][hapmap]
rs646444	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432982	chr6:165528589-165835589	Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv605245	chr6:165542686-165845903	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv1031648	chr6:165544569-165841029	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv432983	chr6:165554403-165851585	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	esv3417270	chr6:165682773-166023032	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv5586	chr6:165694448-165747217	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv508438	chr6:165703355-165760649	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3499772	chr6:165715090-165732713	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3499773	chr6:165715090-165732713	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1812650	chr6:165716093-165737153	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3493315	chr6:165721412-165733110	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3493316	chr6:165721412-165733110	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv886928	chr6:165722345-166197889	Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165721400-165723200	Active TSS	Brain Anterior Caudate	brain
2	chr6:165721600-165722800	Weak transcription	Gastric	stomach
3	chr6:165722200-165722800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr6:165722200-165723200	Active TSS	Brain Hippocampus Middle	brain
5	chr6:165722200-165723200	Active TSS	Fetal Lung	lung
6	chr6:165722200-165723200	Active TSS	HSMM	muscle
7	chr6:165722400-165722800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
8	chr6:165722400-165722800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:165722400-165722800	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr6:165722400-165722800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:165722400-165722800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr6:165722400-165722800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:165722400-165722800	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr6:165722400-165722800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
15	chr6:165722400-165722800	Flanking Active TSS	Fetal Muscle Leg	muscle
16	chr6:165722400-165722800	Flanking Active TSS	Right Ventricle	heart
17	chr6:165722400-165722800	Flanking Active TSS	Hela-S3	cervix
18	chr6:165722400-165723000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:165722400-165723000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:165722400-165723000	Active TSS	Brain Angular Gyrus	brain
21	chr6:165722400-165723000	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr6:165722400-165723000	Flanking Active TSS	Fetal Brain Male	brain
23	chr6:165722400-165723000	Active TSS	Ovary	ovary
24	chr6:165722400-165723000	Active TSS	Rectal Smooth Muscle	rectum
25	chr6:165722400-165723000	Active TSS	NH-A	brain
26	chr6:165722400-165723200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr6:165722400-165723200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:165722400-165723200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr6:165722400-165723200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr6:165722400-165723200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr6:165722400-165723200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:165722400-165723200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr6:165722400-165723200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:165722400-165723200	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr6:165722400-165723200	Bivalent Enhancer	Liver	Liver
36	chr6:165722400-165723200	Active TSS	Brain Cingulate Gyrus	brain
37	chr6:165722400-165723200	Active TSS	Brain Substantia Nigra	brain
38	chr6:165722400-165723200	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr6:165722400-165723200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr6:165722400-165723200	Active TSS	Fetal Intestine Small	intestine
41	chr6:165722400-165723200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr6:165722400-165723200	Active TSS	Psoas Muscle	Psoas
43	chr6:165722400-165723200	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr6:165722400-165723200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
45	chr6:165722400-165723200	Active TSS	Stomach Smooth Muscle	stomach
46	chr6:165722400-165723200	Enhancers	Spleen	Spleen
47	chr6:165722400-165723200	Active TSS	HSMMtube	muscle
48	chr6:165722400-165723200	Active TSS	Osteobl	bone
49	chr6:165722400-165723400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:165722400-165723400	Active TSS	Brain Germinal Matrix	brain

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