Variant report

Variant	rs35209006
Chromosome Location	chr16:71879162-71879163
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr16:71878934-71880136	GM12878	blood:	n/a	n/a
2	PML	chr16:71878906-71880606	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:71879033-71879260	GM12891	blood:	n/a	n/a
4	POLR2A	chr16:71879150-71879185	K562	blood:	n/a	n/a
5	POLR2A	chr16:71878864-71879197	GM12878	blood:	n/a	n/a
6	POLR2A	chr16:71879091-71880794	HepG2	liver:	n/a	n/a
7	GATA1	chr16:71879127-71880046	PBDE	blood:	n/a	n/a
8	POLR2A	chr16:71879109-71880746	GM19193	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71841032..71844957-chr16:71878188..71881982,18	MCF-7	breast:
2	chr16:71878397..71880298-chr16:71917810..71919339,2	MCF-7	breast:
3	chr16:71840441..71845295-chr16:71875076..71881716,14	K562	blood:
4	chr16:71756009..71758513-chr16:71878989..71881221,2	K562	blood:
5	chr16:71878736..71881297-chr20:57268088..57270906,2	MCF-7	breast:
6	chr16:71878320..71880402-chr16:71929242..71933378,4	MCF-7	breast:
7	chr16:71878006..71880307-chr16:74330687..74332965,2	MCF-7	breast:
8	chr16:71841284..71844520-chr16:71878157..71881366,4	K562	blood:
9	chr16:71874199..71877038-chr16:71877989..71879854,2	MCF-7	breast:
10	chr16:71877290..71879173-chr16:71916547..71919172,2	MCF-7	breast:
11	chr16:71879026..71881212-chr16:71914841..71917763,3	MCF-7	breast:
12	chr16:71832833..71836832-chr16:71876405..71879704,4	K562	blood:
13	chr16:71878378..71882676-chr16:71918678..71922110,3	K562	blood:
14	chr16:71755537..71758357-chr16:71878950..71881033,2	K562	blood:
15	chr16:71841846..71843774-chr16:71878337..71881293,3	MCF-7	breast:

No data

Variant related genes	Relation type
ATXN1L	TF binding region
IST1	TF binding region
ENSG00000261765	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000103035	Chromatin interaction
ENSG00000261513	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000215440	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000040199	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10500567	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10852507	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11075906	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11639843	0.82[ASN][1000 genomes]
rs11640135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11644740	0.82[ASN][1000 genomes]
rs11865456	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12149307	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12149325	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12149917	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12445564	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12445641	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12448086	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12921279	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12921459	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12927691	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12934512	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13330178	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17357420	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17358402	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28667298	0.89[ASN][1000 genomes]
rs2878494	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3088285	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34029919	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34101687	0.82[ASN][1000 genomes]
rs34664834	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35028754	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35404791	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35535529	0.96[EUR][1000 genomes]
rs35595148	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36182990	0.82[ASN][1000 genomes]
rs3751820	0.90[EUR][1000 genomes]
rs4528577	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71384781	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs71384782	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71386939	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71386940	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71386942	0.82[ASN][1000 genomes]
rs7185027	0.88[EUR][1000 genomes]
rs7188591	0.91[EUR][1000 genomes]
rs7191848	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7195988	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7197486	0.91[EUR][1000 genomes]
rs7198834	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7200447	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73586164	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8046044	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8049508	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8050058	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8052358	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8053906	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8063657	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9940234	0.87[EUR][1000 genomes];0.82[ASN][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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised 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 target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71871600-71879200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr16:71876000-71879400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:71876400-71879200	Weak transcription	Esophagus	oesophagus
4	chr16:71876400-71879200	Weak transcription	Placenta	Placenta
5	chr16:71876600-71879200	Weak transcription	Primary T cells from cord blood	blood
6	chr16:71877000-71879400	Weak transcription	Fetal Heart	heart
7	chr16:71878400-71879400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr16:71878800-71880400	Active TSS	Colon Smooth Muscle	Colon
9	chr16:71879000-71879200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr16:71879000-71879200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr16:71879000-71879200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:71879000-71879200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:71879000-71879200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr16:71879000-71879200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr16:71879000-71879200	Enhancers	Primary B cells from cord blood	blood
16	chr16:71879000-71879200	Enhancers	Primary hematopoietic stem cells	blood
17	chr16:71879000-71879200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr16:71879000-71879200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr16:71879000-71879200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:71879000-71879200	Enhancers	Brain Angular Gyrus	brain
21	chr16:71879000-71879200	Enhancers	Brain Anterior Caudate	brain
22	chr16:71879000-71879200	Enhancers	Brain Cingulate Gyrus	brain
23	chr16:71879000-71879200	Enhancers	Brain Hippocampus Middle	brain
24	chr16:71879000-71879200	Enhancers	Fetal Muscle Trunk	muscle
25	chr16:71879000-71879200	Enhancers	Fetal Muscle Leg	muscle
26	chr16:71879000-71879200	Enhancers	Fetal Thymus	thymus
27	chr16:71879000-71879200	Enhancers	Left Ventricle	heart
28	chr16:71879000-71879200	Flanking Active TSS	Pancreas	Pancrea
29	chr16:71879000-71879200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr16:71879000-71879200	Enhancers	Thymus	Thymus
31	chr16:71879000-71879200	Active TSS	Hela-S3	cervix
32	chr16:71879000-71879200	Enhancers	HMEC	breast
33	chr16:71879000-71879200	Enhancers	HUVEC	blood vessel
34	chr16:71879000-71879200	Flanking Active TSS	K562	blood
35	chr16:71879000-71879200	Active TSS	Monocytes-CD14+_RO01746	blood
36	chr16:71879000-71879200	Flanking Active TSS	NHEK	skin
37	chr16:71879000-71879200	Flanking Active TSS	Osteobl	bone
38	chr16:71879000-71879400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr16:71879000-71879400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:71879000-71879400	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr16:71879000-71879400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr16:71879000-71879400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr16:71879000-71879400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr16:71879000-71879400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr16:71879000-71879400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr16:71879000-71879400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr16:71879000-71879400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr16:71879000-71879400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr16:71879000-71879400	Enhancers	Small Intestine	intestine
50	chr16:71879000-71879400	Enhancers	Stomach Mucosa	stomach

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