Variant report

Variant	rs9429699
Chromosome Location	chr1:113421892-113421893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113415161..113418488-chr1:113420570..113424322,4	K562	blood:
2	chr1:113411911..113414258-chr1:113419696..113422107,2	MCF-7	breast:
3	chr1:113420012..113422020-chr1:113615413..113617603,2	K562	blood:
4	chr1:113421698..113424854-chr1:113496536..113501677,6	K562	blood:
5	chr1:113421698..113424521-chr1:113497162..113501677,6	K562	blood:
6	chr1:113255487..113258161-chr1:113420887..113423423,3	K562	blood:
7	chr1:113421355..113423469-chr1:113497371..113499587,2	MCF-7	breast:
8	chr1:113421587..113424736-chr1:113583992..113587746,3	K562	blood:
9	chr1:113415018..113417156-chr1:113420570..113423546,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226419	Chromatin interaction
ENSG00000238198	Chromatin interaction
ENSG00000155367	Chromatin interaction
ENSG00000198799	Chromatin interaction
ENSG00000155380	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10158316	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059435	1.00[EUR][1000 genomes]
rs12067118	1.00[EUR][1000 genomes]
rs12070103	1.00[EUR][1000 genomes]
rs12070165	1.00[EUR][1000 genomes]
rs17030801	1.00[EUR][1000 genomes]
rs17030825	1.00[EUR][1000 genomes]
rs17030972	1.00[EUR][1000 genomes]
rs3866218	1.00[EUR][1000 genomes]
rs3892517	1.00[EUR][1000 genomes]
rs41510545	1.00[EUR][1000 genomes]
rs55879014	1.00[EUR][1000 genomes]
rs57514267	1.00[EUR][1000 genomes]
rs57546902	1.00[EUR][1000 genomes]
rs58175041	1.00[EUR][1000 genomes]
rs60031820	1.00[EUR][1000 genomes]
rs60103137	1.00[EUR][1000 genomes]
rs60860858	1.00[EUR][1000 genomes]
rs61134101	1.00[EUR][1000 genomes]
rs6657154	1.00[EUR][1000 genomes]
rs6678201	1.00[EUR][1000 genomes]
rs6694556	1.00[EUR][1000 genomes]
rs6697225	1.00[EUR][1000 genomes]
rs72982471	1.00[EUR][1000 genomes]
rs72984355	1.00[EUR][1000 genomes]
rs72986328	1.00[EUR][1000 genomes]
rs72986329	1.00[EUR][1000 genomes]
rs72986335	1.00[EUR][1000 genomes]
rs72986336	1.00[EUR][1000 genomes]
rs72986345	1.00[EUR][1000 genomes]
rs73000304	1.00[EUR][1000 genomes]
rs73000323	1.00[EUR][1000 genomes]
rs73000328	1.00[EUR][1000 genomes]
rs7531239	1.00[EUR][1000 genomes]
rs7534668	1.00[EUR][1000 genomes]
rs7539797	1.00[EUR][1000 genomes]
rs7541153	1.00[EUR][1000 genomes]
rs9308259	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9429498	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9429499	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9429502	1.00[EUR][1000 genomes]
rs9429703	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer 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	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv818378	chr1:113263711-113434818	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1008434	chr1:113288282-113447426	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
12	esv3399982	chr1:113358580-113542255	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
13	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats 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	69 gene(s)	inside rSNPs	diseases
14	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
15	esv3362439	chr1:113376621-113450321	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113415000-113424600	Weak transcription	Right Atrium	heart
2	chr1:113415600-113423400	Weak transcription	Osteobl	bone
3	chr1:113415800-113422000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:113415800-113423200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:113416000-113423200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:113416000-113424600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:113417000-113424400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:113417200-113423600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:113417800-113423600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:113418000-113423400	Weak transcription	NHEK	skin
11	chr1:113418000-113423600	Weak transcription	HMEC	breast
12	chr1:113420600-113423000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:113420800-113423800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:113421000-113423000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:113421200-113422000	Weak transcription	Placenta	Placenta
16	chr1:113421200-113422400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:113421200-113423200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:113421200-113423800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:113421200-113424400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:113421200-113424400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:113421200-113424600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:113421400-113422200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:113421400-113423400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:113421400-113423400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:113421400-113423400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:113421400-113423400	Weak transcription	Brain Substantia Nigra	brain
27	chr1:113421400-113424400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:113421400-113424600	Weak transcription	Fetal Brain Female	brain
29	chr1:113421400-113424800	Weak transcription	Brain Angular Gyrus	brain
30	chr1:113421400-113435200	Weak transcription	Fetal Heart	heart
31	chr1:113421600-113422000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:113421600-113422000	Weak transcription	Colonic Mucosa	Colon
33	chr1:113421600-113422800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:113421600-113423400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:113421600-113423400	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:113421600-113423600	Weak transcription	K562	blood
37	chr1:113421600-113424600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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