Variant report

Variant	rs8135718
Chromosome Location	chr22:28387191-28387192
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	RAD21	chr22:28387101-28387241	K562	blood:	n/a	chr22:28387146-28387159
2	CTCF	chr22:28387068-28387270	Hela-S3	cervix:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
3	CTCF	chr22:28387080-28387230	BE2_C	brain:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
4	CTCF	chr22:28386886-28387367	H1-hESC	embryonic stem cell:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
5	CTCF	chr22:28387061-28387232	Spleen_OC	spleen:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
6	CTCF	chr22:28387080-28387230	HCM	heart:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
7	CTCF	chr22:28387024-28387282	MCF-7	breast:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
8	CTCF	chr22:28387100-28387250	GM12868	blood:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
9	CTCF	chr22:28387100-28387250	HCFaa	heart:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
10	CTCF	chr22:28387100-28387250	GM12873	blood:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
11	MAX	chr22:28386784-28387356	H1-hESC	embryonic stem cell:	n/a	chr22:28386997-28387006
12	CTCF	chr22:28387100-28387250	NHEK	skin:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
13	CTCF	chr22:28387080-28387230	GM12875	blood:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
14	KAP1	chr22:28386828-28387408	U2OS	brain:	n/a	n/a
15	POLR2A	chr22:28386934-28387274	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr22:28387056-28387262	Fibrobl	skin:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
17	ELF1	chr22:28386905-28387241	GM12878	blood:	n/a	n/a
18	CTCF	chr22:28387100-28387250	HCPEpiC	choroid plexus:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
19	RAD21	chr22:28386924-28387363	HepG2	liver:	n/a	chr22:28386956-28386966 chr22:28387146-28387159
20	KAP1	chr22:28386813-28387374	HEK293	kidney:	n/a	n/a
21	CTCF	chr22:28387060-28387210	HBMEC	blood vessel:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
22	MYC	chr22:28386320-28387364	NB4	blood:	n/a	chr22:28386997-28387006
23	CTCF	chr22:28387105-28387232	GM13976	blood:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
24	CTCF	chr22:28387032-28387278	GM19238	blood:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
25	CEBPB	chr22:28386729-28387385	HepG2	liver:	n/a	chr22:28386869-28386882 chr22:28386870-28386881
26	CTCF	chr22:28387140-28387290	HVMF	connective:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
27	GABPA	chr22:28386821-28387312	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr22:28387080-28387230	AG10803	skin:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
29	SMC3	chr22:28386924-28387302	HepG2	liver:	n/a	chr22:28386952-28386966
30	CTCF	chr22:28386911-28387395	MCF-7	breast:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
31	CTCF	chr22:28387016-28387282	K562	blood:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
32	CEBPB	chr22:28386713-28387364	MCF-7	breast:	n/a	chr22:28386869-28386882 chr22:28386870-28386881
33	RCOR1	chr22:28386907-28387203	K562	blood:	n/a	n/a
34	CTCF	chr22:28387100-28387250	K562	blood:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
35	CTCF	chr22:28387100-28387250	Caco-2	colon:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
36	CTCF	chr22:28387100-28387250	GM12801	blood:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
37	CTCF	chr22:28386851-28387329	A549	lung:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
38	CTCF	chr22:28387060-28387210	WERI-Rb-1	eye:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
39	CTCF	chr22:28387080-28387230	HMF	breast:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
40	CTCF	chr22:28386975-28387310	K562	blood:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
41	CTCF	chr22:28387017-28387294	MCF-7	breast:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
42	CTCF	chr22:28386961-28387288	H1-hESC	embryonic stem cell:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
43	CTCF	chr22:28387080-28387230	GM12865	blood:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
44	CTCF	chr22:28387080-28387230	HFF-Myc	foreskin:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
45	SMC3	chr22:28387048-28387352	GM12878	blood:	n/a	n/a
46	CTCF	chr22:28387080-28387230	WI-38	lung:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
47	CTCF	chr22:28387100-28387250	SAEC	small airway:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
48	CTCF	chr22:28387080-28387230	GM12867	blood:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
49	CTCF	chr22:28386964-28387331	HepG2	liver:	n/a	chr22:28387145-28387158 chr22:28387158-28387171
50	CEBPB	chr22:28386759-28387316	H1-hESC	embryonic stem cell:	n/a	chr22:28386869-28386882 chr22:28386870-28386881

No.	Distal block	Cell Line	Cell type
1	chr22:28386557..28389416-chr22:28392270..28394268,2	MCF-7	breast:
2	chr22:28282285..28283174-chr22:28386700..28387606,3	K562	blood:
3	chr22:28386554..28387584-chr22:28405047..28405963,3	MCF-7	breast:
4	chr22:28386424..28391096-chr22:28391178..28396307,7	MCF-7	breast:
5	chr22:28314687..28317374-chr22:28386537..28389209,3	MCF-7	breast:

Variant related genes	Relation type
TTC28-AS1	TF binding region
TTC28	TF binding region
ENSG00000235954	Chromatin interaction
ENSG00000180957	Chromatin interaction
ENSG00000100154	Chromatin interaction
ENSG00000264073	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs8135697	0.83[AFR][1000 genomes]
rs8143058	0.90[AFR][1000 genomes]
rs9754330	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv522306	chr22:28378472-28402624	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28355400-28387800	Weak transcription	Fetal Brain Male	brain
2	chr22:28360800-28392400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr22:28369200-28398400	Weak transcription	Hela-S3	cervix
4	chr22:28369400-28394000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr22:28370400-28387200	Weak transcription	Fetal Kidney	kidney
6	chr22:28371800-28395000	Weak transcription	Small Intestine	intestine
7	chr22:28373600-28404000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:28373800-28398200	Strong transcription	Fetal Brain Female	brain
9	chr22:28373800-28404200	Strong transcription	Fetal Stomach	stomach
10	chr22:28373800-28405200	Strong transcription	Fetal Intestine Small	intestine
11	chr22:28377200-28387200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr22:28377200-28388600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr22:28377800-28391800	Strong transcription	Fetal Lung	lung
14	chr22:28377800-28398000	Strong transcription	Fetal Intestine Large	intestine
15	chr22:28377800-28398600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:28378000-28396600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr22:28379000-28387600	Weak transcription	Thymus	Thymus
18	chr22:28379400-28399600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr22:28379800-28388200	Weak transcription	Colonic Mucosa	Colon
20	chr22:28380200-28390400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr22:28380600-28387200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr22:28381000-28388200	Weak transcription	Esophagus	oesophagus
23	chr22:28381400-28388200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr22:28381600-28393800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr22:28381800-28412400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr22:28382000-28388800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:28382200-28394000	Weak transcription	Brain Substantia Nigra	brain
28	chr22:28382800-28391800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr22:28382800-28394600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:28383200-28388200	Weak transcription	Gastric	stomach
31	chr22:28383400-28387200	Weak transcription	HepG2	liver
32	chr22:28383400-28387400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr22:28383600-28388000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr22:28384000-28390600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr22:28384000-28405000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr22:28384200-28387800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr22:28384200-28390600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr22:28384200-28399400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr22:28384400-28392600	Strong transcription	Brain Germinal Matrix	brain
40	chr22:28384600-28397600	Strong transcription	Ovary	ovary
41	chr22:28384800-28401600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr22:28385000-28388000	Weak transcription	HSMMtube	muscle
43	chr22:28385000-28390400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr22:28385000-28393400	Weak transcription	HSMM	muscle
45	chr22:28385200-28387800	Weak transcription	Pancreas	Pancrea
46	chr22:28385200-28390800	Weak transcription	Brain Hippocampus Middle	brain
47	chr22:28385400-28387200	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr22:28385400-28387600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr22:28385600-28387400	Enhancers	Right Ventricle	heart
50	chr22:28385800-28387600	Enhancers	Skeletal Muscle Male	skeletal muscle

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