Variant report

Variant	rs35448798
Chromosome Location	chr9:136997541-136997542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:136997451-136997602	K562	blood:	n/a	n/a
2	POLR2A	chr9:136997536-136997561	MCF-7	breast:	n/a	n/a
3	POLR2A	chr9:136997313-136997789	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:136997504-136997554	U87	brain:	n/a
2	chr9:136997504-136997554	HRPEpiC	eye:	n/a
3	chr9:136997504-136997554	HNPCEpiC	eye:	n/a
4	chr9:136997504-136997554	K562	blood:	n/a
5	chr9:136997504-136997554	HAEpiC	amniotic membrane:	n/a
6	chr9:136997504-136997554	Hepatocyte	liver:	n/a
7	chr9:136997504-136997554	Caco-2	colon:	n/a
8	chr9:136997504-136997554	ECC-1	luminal epithelium:	n/a
9	chr9:136997504-136997554	AoSMC	blood vessel:	n/a
10	chr9:136997504-136997554	A549	lung:	n/a
11	chr9:136997504-136997554	IMR90	lung:	fetal
12	chr9:136997504-136997554	SAEC	small airway:	n/a
13	chr9:136997504-136997554	ProgFib	skin:	n/a
14	chr9:136997504-136997554	GM12891	blood:	n/a
15	chr9:136997504-136997554	H1-hESC	embryonic stem cell:	embryo
16	chr9:136997504-136997554	HCM	heart:	n/a
17	chr9:136997504-136997554	HRCEpiC	kidney:	n/a
18	chr9:136997504-136997554	PANC-1	pancreas:	n/a
19	chr9:136997504-136997554	HCT-116	colon:	n/a
20	chr9:136997504-136997554	GM19239	blood:	n/a
21	chr9:136997504-136997554	HEK293	kidney:	embryo
22	chr9:136997504-136997554	PrEC	prostate:	n/a
23	chr9:136997504-136997554	SK-N-SH	brain:	n/a
24	chr9:136997504-136997554	RPTEC	kidney:	n/a
25	chr9:136997504-136997554	NT2-D1	testis:	n/a
26	chr9:136997504-136997554	AG09309	skin:	n/a
27	chr9:136997504-136997554	ovcar-3	ovarian:	n/a
28	chr9:136997504-136997554	HCPEpiC	choroid plexus:	n/a
29	chr9:136997504-136997554	CMK	blood:	n/a
30	chr9:136997504-136997554	BE2_C	brain:	n/a
31	chr9:136997504-136997554	AG04449	skin:	fetal
32	chr9:136997504-136997554	PFSK-1	brain:	n/a
33	chr9:136997504-136997554	HRE	kidney:	n/a
34	chr9:136997504-136997554	NH-A	brain:	n/a
35	chr9:136997504-136997554	T-47D	breast:	n/a
36	chr9:136997504-136997554	AG10803	skin:	n/a
37	chr9:136997504-136997554	HepG2	liver:	n/a
38	chr9:136997504-136997554	HIPEpiC	eye:	n/a
39	chr9:136997504-136997554	LNCaP	prostate:	n/a
40	chr9:136997504-136997554	GM06990	blood:	n/a
41	chr9:136997504-136997554	SK-N-MC	brain:	n/a
42	chr9:136997504-136997554	NHBE	bronchial:	n/a
43	chr9:136997504-136997554	HL-60	blood:	n/a
44	chr9:136997504-136997554	MCF-7	breast:	n/a
45	chr9:136997504-136997554	HEEpiC	esophagus:	n/a
46	chr9:136997504-136997554	SK-N-SH_RA	brain:	n/a
47	chr9:136997504-136997554	SKMC	muscle:	n/a
48	chr9:136997504-136997554	AG04450	lung:	fetal
49	chr9:136997504-136997554	MCF10A-Er-Src	breast:	n/a
50	chr9:136997504-136997554	HPAEpiC	pulmonary alveolar:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:136737938..136739664-chr9:136994862..136997731,2	MCF-7	breast:
2	chr9:136932101..136934790-chr9:136997116..136999194,2	MCF-7	breast:
3	chr9:136996126..136998065-chr9:137029177..137031559,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BRD3-1	chr9:136997364-136997595	ENSG00000273249.1

No data

Variant related genes	Relation type
WDR5	TF binding region
WDR5	CpG island
ENSG00000169925	Chromatin interaction
ENSG00000221676	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs28360858	1.00[EUR][1000 genomes]
rs28399690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28401385	1.00[EUR][1000 genomes]
rs28412245	1.00[EUR][1000 genomes]
rs28440102	1.00[EUR][1000 genomes]
rs28452481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28473171	1.00[EUR][1000 genomes]
rs28479377	1.00[EUR][1000 genomes]
rs28491791	1.00[EUR][1000 genomes]
rs28507057	1.00[EUR][1000 genomes]
rs28562957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28579703	1.00[EUR][1000 genomes]
rs28620240	1.00[EUR][1000 genomes]
rs28705689	1.00[EUR][1000 genomes]
rs28708401	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28710163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28712382	1.00[EUR][1000 genomes]
rs28714237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28740804	1.00[EUR][1000 genomes]
rs28758854	1.00[EUR][1000 genomes]
rs28759311	1.00[EUR][1000 genomes]
rs34079254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34194763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34473303	1.00[EUR][1000 genomes]
rs34546899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34607253	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34646496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34861636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34929179	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35209649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35322411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35387289	1.00[EUR][1000 genomes]
rs35419030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35487246	0.84[EUR][1000 genomes]
rs35489314	1.00[EUR][1000 genomes]
rs35504753	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35511305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35709000	1.00[EUR][1000 genomes]
rs35726748	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35924689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71483222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71505283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71505284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894138	chr9:136839840-137093168	Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv825148	chr9:136848471-137025632	Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1048571	chr9:136872166-137265444	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv894148	chr9:136874066-137093168	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Active 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	23 gene(s)	inside rSNPs	diseases
5	nsv894151	chr9:136887757-137397609	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	57 gene(s)	inside rSNPs	diseases
6	nsv6751	chr9:136967475-137007131	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv894155	chr9:136969689-137364866	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
8	esv1793302	chr9:136990615-137390602	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136991000-136999400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:136994400-136999400	Weak transcription	Primary B cells from cord blood	blood
3	chr9:136994600-136999200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:136994600-136999400	Weak transcription	Spleen	Spleen
5	chr9:136994600-136999800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr9:136996000-136997600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:136996000-136997800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr9:136996000-136998000	Enhancers	Pancreas	Pancrea
9	chr9:136996200-136997800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:136996400-136997800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr9:136996400-136997800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:136996400-136998200	Enhancers	Adipose Nuclei	Adipose
13	chr9:136996400-136999400	Weak transcription	Brain Angular Gyrus	brain
14	chr9:136996400-136999600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr9:136996400-136999600	Weak transcription	Colon Smooth Muscle	Colon
16	chr9:136996400-136999600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr9:136996600-136999000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:136996600-136999200	Weak transcription	Stomach Mucosa	stomach
19	chr9:136996600-136999400	Weak transcription	Brain Anterior Caudate	brain
20	chr9:136996600-136999400	Weak transcription	Colonic Mucosa	Colon
21	chr9:136996600-136999400	Weak transcription	Placenta	Placenta
22	chr9:136996600-136999600	Weak transcription	Fetal Intestine Small	intestine
23	chr9:136996600-136999600	Weak transcription	A549	lung
24	chr9:136996600-136999800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:136996600-136999800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr9:136996600-136999800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr9:136996600-136999800	Weak transcription	Small Intestine	intestine
28	chr9:136996800-136998200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:136996800-136998200	Enhancers	Lung	lung
30	chr9:136996800-136998200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr9:136996800-136998600	Enhancers	Fetal Muscle Leg	muscle
32	chr9:136996800-136999000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:136996800-136999000	Weak transcription	NHEK	skin
34	chr9:136996800-136999200	Weak transcription	HMEC	breast
35	chr9:136996800-136999400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:136996800-136999400	Weak transcription	Esophagus	oesophagus
37	chr9:136996800-136999400	Weak transcription	Fetal Heart	heart
38	chr9:136996800-136999600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr9:136996800-136999600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr9:136996800-136999600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr9:136996800-136999800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr9:136996800-136999800	Weak transcription	Left Ventricle	heart
43	chr9:136997000-136997600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr9:136997000-136999200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr9:136997000-136999400	Weak transcription	Liver	Liver
46	chr9:136997000-136999400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr9:136997000-136999400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr9:136997000-136999600	Weak transcription	Fetal Intestine Large	intestine
49	chr9:136997000-136999600	Weak transcription	Ovary	ovary
50	chr9:136997000-136999600	Weak transcription	Right Ventricle	heart

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