Variant report

Variant	rs55829736
Chromosome Location	chr7:7464299-7464300
allele	G/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	CTCF	chr7:7464050-7464352	NHEK	skin:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
2	CTCF	chr7:7464160-7464310	HPF	lung:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
3	CTCF	chr7:7464084-7464336	GM13977	blood:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
4	YY1	chr7:7464121-7464331	K562	blood:	n/a	n/a
5	CTCF	chr7:7464082-7464330	Lung_OC	lung:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
6	SPI1	chr7:7464161-7464586	HL-60	blood:	n/a	chr7:7464387-7464394 chr7:7464386-7464395 chr7:7464384-7464397
7	CTCF	chr7:7464160-7464310	AG09319	gingival:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
8	YY1	chr7:7464078-7464464	SK-N-SH_RA	brain:	n/a	n/a
9	MYC	chr7:7464178-7464447	MCF10A-Er-Src	breast:	n/a	n/a
10	RUNX3	chr7:7464068-7464566	GM12878	blood:	n/a	n/a
11	RAD21	chr7:7463975-7464443	HepG2	liver:	n/a	chr7:7464211-7464225 chr7:7464210-7464229
12	CTCF	chr7:7464097-7464331	GM12892	blood:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
13	CTCF	chr7:7464059-7464351	Spleen_OC	spleen:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
14	CTCF	chr7:7464090-7464334	A549	lung:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
15	CTCF	chr7:7463509-7465032	A549	lung:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
16	SPI1	chr7:7464159-7464517	GM12891	blood:	n/a	chr7:7464387-7464394 chr7:7464386-7464395 chr7:7464384-7464397
17	CTCF	chr7:7463977-7464422	H1-hESC	embryonic stem cell:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
18	ZNF143	chr7:7464055-7464484	GM12878	blood:	n/a	n/a
19	RAD21	chr7:7464012-7464470	A549	lung:	n/a	chr7:7464211-7464225 chr7:7464210-7464229
20	CTCF	chr7:7463973-7464522	IMR90	lung:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
21	CTCF	chr7:7464074-7464317	K562	blood:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
22	CTCF	chr7:7464031-7464364	Gliobla	brain:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
23	EBF1	chr7:7464290-7464354	GM12878	blood:	n/a	n/a
24	RAD21	chr7:7463978-7464436	H1-hESC	embryonic stem cell:	n/a	chr7:7464211-7464225 chr7:7464210-7464229
25	CTCF	chr7:7464082-7464324	MCF-7	breast:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
26	CTCF	chr7:7463995-7464406	H1-hESC	embryonic stem cell:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
27	CTCF	chr7:7464119-7464300	GM13976	blood:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
28	CTCF	chr7:7464160-7464310	WERI-Rb-1	eye:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
29	CTCF	chr7:7464160-7464310	AG10803	skin:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
30	CTCF	chr7:7464073-7464352	K562	blood:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
31	CTCF	chr7:7464160-7464310	GM12869	blood:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
32	CHD2	chr7:7464056-7464387	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr7:7464088-7464352	HepG2	liver:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
34	CTCF	chr7:7464002-7464379	MCF-7	breast:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
35	STAT1	chr7:7464285-7464354	GM12878	blood:	n/a	n/a
36	YY1	chr7:7464140-7464408	GM12892	blood:	n/a	n/a
37	RAD21	chr7:7463960-7464529	ECC-1	luminal epithelium:	n/a	chr7:7464211-7464225 chr7:7464210-7464229
38	CTCF	chr7:7464160-7464310	GM12865	blood:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
39	MAX	chr7:7463992-7464452	NB4	blood:	n/a	n/a
40	CTCF	chr7:7464003-7464424	K562	blood:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
41	CTCF	chr7:7464047-7464348	ProgFib	skin:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
42	CTCF	chr7:7464066-7464367	Medullo	brain:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
43	RAD21	chr7:7463804-7464607	HCT-116	colon:	n/a	chr7:7464211-7464225 chr7:7464210-7464229
44	RAD21	chr7:7463991-7464527	SK-N-SH_RA	brain:	n/a	chr7:7464211-7464225 chr7:7464210-7464229
45	CTCF	chr7:7463994-7464395	T-47D	breast:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
46	CTCF	chr7:7463925-7464483	MCF-7	breast:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
47	YY1	chr7:7463939-7464432	H1-hESC	embryonic stem cell:	n/a	n/a
48	FOS	chr7:7464089-7464353	MCF10A-Er-Src	breast:	n/a	n/a
49	CTCF	chr7:7464160-7464310	HCFaa	heart:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
50	RAD21	chr7:7463862-7464497	H1-hESC	embryonic stem cell:	n/a	chr7:7464211-7464225 chr7:7464210-7464229

No.	Distal block	Cell Line	Cell type
1	chr7:7463756..7464685-chr7:7580802..7582089,8	MCF-7	breast:
2	chr7:7141034..7143515-chr7:7462815..7464467,2	MCF-7	breast:
3	chr7:7463700..7464480-chr7:7580427..7581567,10	MCF-7	breast:
4	chr7:7464180..7464696-chr7:7579103..7579829,2	MCF-7	breast:
5	chr7:7463681..7464442-chr7:7580757..7581561,4	K562	blood:

Variant related genes	Relation type
COL28A1	TF binding region
ENSG00000201218	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11972066	1.00[AMR][1000 genomes]
rs11976726	1.00[AMR][1000 genomes]
rs11981695	1.00[AMR][1000 genomes]
rs11982694	1.00[AMR][1000 genomes]
rs11984435	1.00[AMR][1000 genomes]
rs17167726	1.00[AMR][1000 genomes]
rs17167774	1.00[AMR][1000 genomes]
rs56154637	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56885641	1.00[AMR][1000 genomes]
rs58629004	1.00[AMR][1000 genomes]
rs58942552	1.00[AMR][1000 genomes]
rs59036921	1.00[AMR][1000 genomes]
rs59408763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59868178	1.00[AMR][1000 genomes]
rs61567987	1.00[AMR][1000 genomes]
rs6947219	1.00[AMR][1000 genomes]
rs6973525	1.00[AMR][1000 genomes]
rs73334105	1.00[AMR][1000 genomes]
rs73334129	1.00[AMR][1000 genomes]
rs73347181	1.00[AMR][1000 genomes]
rs73674553	1.00[AMR][1000 genomes]
rs73674556	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1032813	chr7:7053923-7497484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv1030246	chr7:7053923-7569633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	esv2758102	chr7:7209911-7493901	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	esv2759505	chr7:7209911-7493901	Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv887470	chr7:7310023-7655094	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv606039	chr7:7317590-7497676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1020988	chr7:7348251-7497484	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
15	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
16	nsv1020181	chr7:7448657-7484862	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7455200-7478600	Weak transcription	Pancreas	Pancrea
2	chr7:7463600-7464600	Enhancers	Dnd41	blood
3	chr7:7463800-7464600	Flanking Active TSS	K562	blood
4	chr7:7463800-7465000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr7:7463800-7465600	Enhancers	Stomach Mucosa	stomach
6	chr7:7464000-7464400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:7464000-7464400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr7:7464000-7464400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:7464000-7464400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr7:7464000-7464400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:7464000-7464400	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr7:7464000-7464400	Active TSS	Colon Smooth Muscle	Colon
13	chr7:7464000-7464400	Active TSS	Rectal Smooth Muscle	rectum
14	chr7:7464000-7464600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:7464000-7464600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:7464000-7464600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr7:7464000-7464600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr7:7464000-7464600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:7464000-7464600	Active TSS	Duodenum Mucosa	Duodenum
20	chr7:7464000-7464600	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr7:7464000-7464600	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr7:7464000-7464600	Active TSS	Thymus	Thymus
23	chr7:7464000-7465000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:7464000-7465000	Enhancers	Gastric	stomach
25	chr7:7464000-7465000	Active TSS	Stomach Smooth Muscle	stomach
26	chr7:7464200-7464400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:7464200-7464400	Active TSS	Primary B cells from cord blood	blood
28	chr7:7464200-7464400	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr7:7464200-7464400	Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr7:7464200-7464400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr7:7464200-7464400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:7464200-7464400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:7464200-7464400	Active TSS	Muscle Satellite Cultured Cells	--
34	chr7:7464200-7464400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:7464200-7464400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr7:7464200-7464400	Active TSS	Fetal Intestine Small	intestine
37	chr7:7464200-7464400	Flanking Active TSS	Fetal Thymus	thymus
38	chr7:7464200-7464400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr7:7464200-7464400	Active TSS	HSMM	muscle
40	chr7:7464200-7464400	Active TSS	HUVEC	blood vessel
41	chr7:7464200-7464400	Active TSS	Monocytes-CD14+_RO01746	blood
42	chr7:7464200-7464400	Active TSS	NHDF-Ad	bronchial
43	chr7:7464200-7464600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr7:7464200-7464600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:7464200-7464600	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr7:7464200-7464600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:7464200-7464600	Active TSS	Primary monocytes fromperipheralblood	blood
48	chr7:7464200-7464600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr7:7464200-7464600	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr7:7464200-7464600	Active TSS	Primary T cells fromperipheralblood	blood

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