Variant report

Variant	rs35872516
Chromosome Location	chr7:127321223-127321224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:127321100-127321250	HFF	foreskin:	n/a	n/a
2	CTCF	chr7:127321080-127321230	HMF	breast:	n/a	n/a
3	CTCF	chr7:127321080-127321230	HCT-116	colon:	n/a	n/a
4	CTCF	chr7:127321160-127321310	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:127321060-127323246	HepG2	liver:	n/a	n/a
6	CTCF	chr7:127321160-127321310	SAEC	small airway:	n/a	n/a
7	CTCF	chr7:127321200-127321350	HCFaa	heart:	n/a	n/a
8	CTCF	chr7:127321140-127321290	GM12872	blood:	n/a	n/a
9	CTCF	chr7:127321220-127321370	NHEK	skin:	n/a	n/a
10	CTCF	chr7:127321200-127321350	HCT-116	colon:	n/a	n/a
11	CUX1	chr7:127321127-127321352	K562	blood:	n/a	n/a
12	CTCF	chr7:127321080-127321230	HBMEC	blood vessel:	n/a	n/a
13	CTCF	chr7:127321180-127321330	HCM	heart:	n/a	n/a
14	SIN3A	chr7:127321201-127321329	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr7:127321100-127321250	HMF	breast:	n/a	n/a
16	CTCF	chr7:127321080-127321230	BJ	skin:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127291715..127294325-chr7:127319985..127322062,2	K562	blood:

No data

Variant related genes	Relation type
SND1	TF binding region
ENSG00000240790	Chromatin interaction
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10487484	0.82[ASN][1000 genomes]
rs10487494	0.82[ASN][1000 genomes]
rs10487496	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12536698	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12706803	0.89[ASN][1000 genomes]
rs13227138	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13235029	0.89[ASN][1000 genomes]
rs13235596	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13244426	0.82[ASN][1000 genomes]
rs13247976	0.82[ASN][1000 genomes]
rs13309235	0.82[ASN][1000 genomes]
rs1419408	0.82[ASN][1000 genomes]
rs17660187	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17662800	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17663644	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17718364	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17730185	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17730294	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34121113	0.89[ASN][1000 genomes]
rs34188289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34195583	0.89[ASN][1000 genomes]
rs34211107	0.82[ASN][1000 genomes]
rs34250605	0.85[AFR][1000 genomes]
rs34365152	0.82[ASN][1000 genomes]
rs34388330	0.82[ASN][1000 genomes]
rs34599926	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34814259	0.89[ASN][1000 genomes]
rs34844752	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34874680	0.82[ASN][1000 genomes]
rs34881339	0.82[ASN][1000 genomes]
rs34980225	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35120956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35144279	0.89[ASN][1000 genomes]
rs35246122	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35307919	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35421080	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35521470	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs35528098	0.82[ASN][1000 genomes]
rs35585856	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35640048	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs36043097	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs36046498	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3808090	0.84[AMR][1000 genomes]
rs3808096	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808111	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58341788	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58451280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468943	0.82[ASN][1000 genomes]
rs62481380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481384	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481393	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs62483172	0.82[ASN][1000 genomes]
rs6957054	0.89[ASN][1000 genomes]
rs6964793	0.82[ASN][1000 genomes]
rs737242	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs746238	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788592	0.85[AFR][1000 genomes]
rs7808161	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811506	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127293200-127322000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:127293200-127326600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:127294800-127327400	Weak transcription	Fetal Kidney	kidney
4	chr7:127295000-127322200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:127295200-127321800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:127295400-127326400	Weak transcription	Thymus	Thymus
7	chr7:127296200-127326600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:127299000-127334400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:127304600-127326600	Weak transcription	Fetal Stomach	stomach
10	chr7:127305200-127326600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:127306600-127323600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:127307000-127322000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:127307000-127324200	Weak transcription	Fetal Heart	heart
14	chr7:127307000-127324200	Weak transcription	Stomach Mucosa	stomach
15	chr7:127307000-127330200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:127307200-127323200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:127307800-127324400	Weak transcription	Small Intestine	intestine
18	chr7:127308000-127323600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:127308200-127326600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:127308400-127326600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:127308800-127323600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:127308800-127323600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:127308800-127333600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:127309400-127333600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:127309600-127339600	Weak transcription	Brain Germinal Matrix	brain
26	chr7:127310600-127326400	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:127311200-127326600	Weak transcription	Hela-S3	cervix
28	chr7:127312000-127323200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:127314200-127323600	Weak transcription	Gastric	stomach
30	chr7:127314400-127323200	Weak transcription	Left Ventricle	heart
31	chr7:127314400-127323400	Weak transcription	Pancreas	Pancrea
32	chr7:127314400-127326000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:127314400-127326600	Weak transcription	Spleen	Spleen
34	chr7:127314400-127327600	Weak transcription	Brain Anterior Caudate	brain
35	chr7:127314400-127330400	Weak transcription	Esophagus	oesophagus
36	chr7:127316000-127321400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:127316400-127323800	Weak transcription	Ovary	ovary
38	chr7:127316400-127326600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr7:127317000-127326600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:127317400-127321400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
41	chr7:127317600-127321400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:127317600-127322200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:127318200-127325800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:127318200-127333800	Weak transcription	Brain Angular Gyrus	brain
45	chr7:127318600-127326200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr7:127318800-127321400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr7:127318800-127323600	Weak transcription	Adipose Nuclei	Adipose
48	chr7:127318800-127323800	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:127319000-127323600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:127319200-127321400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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