Variant report

Variant	rs555010622
Chromosome Location	chr6:36164282-36164283
allele	A/C
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	chr6:36163994-36165667	IMR90	lung:	n/a	n/a
2	RAD21	chr6:36164046-36164397	GM12878	blood:	n/a	chr6:36164174-36164187 chr6:36164248-36164262
3	CTCF	chr6:36164140-36164290	HEK293	kidney:	n/a	chr6:36164246-36164264
4	CTCF	chr6:36164220-36164370	GM12869	blood:	n/a	chr6:36164246-36164264
5	RUNX3	chr6:36163750-36164537	GM12878	blood:	n/a	n/a
6	CTCF	chr6:36164160-36164310	AG09319	gingival:	n/a	chr6:36164246-36164264
7	CTCF	chr6:36164140-36164290	GM12864	blood:	n/a	chr6:36164246-36164264
8	MAX	chr6:36163879-36164692	A549	lung:	n/a	chr6:36164451-36164461 chr6:36164162-36164171
9	RAD21	chr6:36163953-36164467	IMR90	lung:	n/a	chr6:36164174-36164187 chr6:36164248-36164262
10	CTCF	chr6:36164140-36164290	HPF	lung:	n/a	chr6:36164246-36164264
11	POLR2A	chr6:36163833-36165846	K562	blood:	n/a	n/a
12	POLR2A	chr6:36163984-36165348	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr6:36164160-36164310	GM12878	blood:	n/a	chr6:36164246-36164264
14	RCOR1	chr6:36163929-36164316	K562	blood:	n/a	n/a
15	MYC	chr6:36164044-36164576	MCF-7	breast:	n/a	chr6:36164451-36164461 chr6:36164162-36164171
16	ZBTB7A	chr6:36164198-36164420	HepG2	liver:	n/a	n/a
17	CTCF	chr6:36164140-36164290	A549	lung:	n/a	chr6:36164246-36164264
18	POLR2A	chr6:36163762-36165393	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr6:36163770-36165445	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr6:36163977-36165400	Hela-S3	cervix:	n/a	n/a
21	YY1	chr6:36163961-36165258	K562	blood:	n/a	chr6:36165010-36165019 chr6:36165007-36165016 chr6:36164526-36164540 chr6:36164701-36164715
22	ZBTB7A	chr6:36163893-36165546	ECC-1	luminal epithelium:	n/a	chr6:36165054-36165061
23	GATA3	chr6:36163988-36164355	T-47D	breast:	n/a	chr6:36164077-36164087
24	RUNX3	chr6:36163557-36164451	GM12878	blood:	n/a	n/a
25	RAD21	chr6:36164021-36164450	A549	lung:	n/a	chr6:36164174-36164187 chr6:36164248-36164262
26	MAX	chr6:36163895-36164792	ECC-1	luminal epithelium:	n/a	chr6:36164451-36164461 chr6:36164162-36164171
27	MAZ	chr6:36163880-36165266	Hela-S3	cervix:	n/a	chr6:36165011-36165021 chr6:36164451-36164461 chr6:36164162-36164171
28	CTCF	chr6:36164160-36164310	GM12872	blood:	n/a	chr6:36164246-36164264
29	PAX5	chr6:36164045-36164293	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:36163968-36165403	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr6:36164108-36164400	NHEK	skin:	n/a	chr6:36164246-36164264
32	FOXA1	chr6:36163532-36164454	HepG2	liver:	n/a	n/a
33	REST	chr6:36163332-36165694	H1-neurons	neurons:	n/a	n/a
34	CTCF	chr6:36164180-36164330	GM12871	blood:	n/a	chr6:36164246-36164264
35	JUND	chr6:36163680-36164383	H1-hESC	embryonic stem cell:	n/a	n/a
36	POU2F2	chr6:36163962-36164427	GM12891	blood:	n/a	n/a
37	CTCF	chr6:36164113-36164360	SK-N-SH_RA	brain:	n/a	chr6:36164246-36164264
38	SMC3	chr6:36164028-36164408	GM12878	blood:	n/a	n/a
39	CTCF	chr6:36164180-36164330	GM12866	blood:	n/a	chr6:36164246-36164264
40	CTCF	chr6:36164140-36164290	HRPEpiC	eye:	n/a	chr6:36164246-36164264
41	MAX	chr6:36163853-36165707	K562	blood:	n/a	chr6:36165011-36165021 chr6:36164451-36164461 chr6:36164162-36164171
42	POLR2A	chr6:36164074-36165420	PFSK-1	brain:	n/a	n/a
43	CREB1	chr6:36163586-36165456	HepG2	liver:	n/a	chr6:36164052-36164065
44	POLR2A	chr6:36163339-36165840	HepG2	liver:	n/a	n/a
45	YY1	chr6:36164148-36164427	GM12891	blood:	n/a	n/a
46	STAT1	chr6:36163875-36164396	GM12878	blood:	n/a	n/a
47	E2F6	chr6:36163958-36164668	K562	blood:	n/a	chr6:36164381-36164388 chr6:36164381-36164388 chr6:36164380-36164388 chr6:36164237-36164246 chr6:36164381-36164388
48	POLR2A	chr6:36163987-36165374	K562	blood:	n/a	n/a
49	CTCF	chr6:36164159-36164365	GM20000	blood:	n/a	chr6:36164246-36164264
50	CTCF	chr6:36164160-36164310	AG04449	skin:	n/a	chr6:36164246-36164264

No.	Distal block	Cell Line	Cell type
1	chr6:35992707..35998254-chr6:36162958..36166458,7	K562	blood:
2	chr6:35993989..35997402-chr6:36163188..36166883,8	MCF-7	breast:
3	chr6:36096617..36099142-chr6:36162886..36164936,2	MCF-7	breast:
4	chr6:36097672..36103046-chr6:36163327..36166048,5	MCF-7	breast:
5	chr6:36089979..36090632-chr6:36163721..36164348,2	MCF-7	breast:
6	chr6:36098131..36102554-chr6:36163258..36166179,4	K562	blood:
7	chr6:35993265..35998448-chr6:36161633..36166981,11	K562	blood:
8	chr16:68271616..68273577-chr6:36163527..36165172,2	MCF-7	breast:
9	chr6:36083240..36096353-chr6:36161490..36168411,30	MCF-7	breast:
10	chr6:36097129..36099054-chr6:36162391..36164603,2	K562	blood:
11	chr6:36105269..36110195-chr6:36162724..36166768,9	MCF-7	breast:
12	chr6:36093292..36096677-chr6:36162699..36165787,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf222-1	chr6:36163814-36164288	NONHSAT112212

Variant related genes	Relation type
BRPF3	TF binding region
ENSG00000112062	Chromatin interaction
ENSG00000221743	Chromatin interaction
ENSG00000103067	Chromatin interaction
ENSG00000156711	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3355640	chr6:36163199-36165747	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3418753	chr6:36163624-36166272	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36163000-36165800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr6:36163200-36165800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr6:36163200-36166200	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr6:36163400-36164400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr6:36163400-36164400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr6:36163400-36165600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:36163400-36165600	Active TSS	Fetal Brain Female	brain
8	chr6:36163400-36165600	Active TSS	Fetal Intestine Large	intestine
9	chr6:36163400-36166000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr6:36163400-36166200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:36163400-36166400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr6:36163400-36166400	Active TSS	Fetal Kidney	kidney
13	chr6:36163600-36165400	Active TSS	Placenta Amnion	Placenta Amnion
14	chr6:36163600-36165600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:36163600-36165600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:36163600-36165600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:36163600-36165600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr6:36163600-36165600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:36163600-36165600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:36163600-36165600	Active TSS	Brain Angular Gyrus	brain
21	chr6:36163600-36165600	Active TSS	Brain Substantia Nigra	brain
22	chr6:36163600-36165600	Active TSS	Colon Smooth Muscle	Colon
23	chr6:36163600-36165600	Active TSS	Fetal Stomach	stomach
24	chr6:36163600-36165600	Active TSS	Psoas Muscle	Psoas
25	chr6:36163600-36165600	Active TSS	Stomach Smooth Muscle	stomach
26	chr6:36163600-36165800	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:36163600-36165800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:36163600-36165800	Active TSS	Aorta	Aorta
29	chr6:36163600-36165800	Active TSS	A549	lung
30	chr6:36163600-36166000	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr6:36163600-36166400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:36163800-36164400	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr6:36163800-36165200	Active TSS	Liver	Liver
34	chr6:36163800-36165400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:36163800-36165400	Active TSS	Brain Cingulate Gyrus	brain
36	chr6:36163800-36165400	Active TSS	Gastric	stomach
37	chr6:36163800-36165400	Active TSS	Lung	lung
38	chr6:36163800-36165400	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr6:36163800-36165400	Active TSS	Small Intestine	intestine
40	chr6:36163800-36165400	Active TSS	Spleen	Spleen
41	chr6:36163800-36165600	Active TSS	H1 Cell Line	embryonic stem cell
42	chr6:36163800-36165600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:36163800-36165600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:36163800-36165600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:36163800-36165600	Active TSS	Esophagus	oesophagus
46	chr6:36163800-36165600	Active TSS	Fetal Intestine Small	intestine
47	chr6:36163800-36165600	Active TSS	Left Ventricle	heart
48	chr6:36163800-36165600	Active TSS	Ovary	ovary
49	chr6:36163800-36165600	Active TSS	Pancreas	Pancrea
50	chr6:36163800-36165600	Active TSS	Right Atrium	heart

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