Variant report

Variant	rs16850284
Chromosome Location	chr1:165740841-165740842
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr1:165740543-165740947	K562	blood:	n/a	n/a
2	POLR2A	chr1:165740779-165740956	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:165735886..165744990-chr1:165791702..165805629,42	K562	blood:
2	chr1:165739737..165742477-chr1:165760188..165762822,2	K562	blood:
3	chr1:165739180..165741043-chr1:165759339..165761023,2	MCF-7	breast:
4	chr1:165736523..165741866-chr1:165791420..165802380,26	K562	blood:
5	chr1:165736117..165742504-chr1:165795129..165799551,11	MCF-7	breast:
6	chr1:165739953..165741791-chr1:165806314..165808597,2	K562	blood:

No data

Variant related genes	Relation type
TMCO1	TF binding region
ENSG00000143183	Chromatin interaction
ENSG00000143179	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10918275	0.86[YRI][hapmap]
rs10918277	1.00[YRI][hapmap]
rs12059327	0.85[YRI][hapmap]
rs12063717	0.84[YRI][hapmap]
rs12084371	0.86[YRI][hapmap]
rs12092685	0.96[AFR][1000 genomes]
rs16850119	0.86[YRI][hapmap]
rs41510944	0.85[YRI][hapmap]
rs6683657	0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription 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	41 gene(s)	inside rSNPs	diseases
3	nsv518886	chr1:165714187-165741646	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165738800-165744800	Weak transcription	Spleen	Spleen
2	chr1:165738800-165745200	Weak transcription	Gastric	stomach
3	chr1:165739000-165745000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:165739000-165745200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:165739200-165741200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:165739200-165742600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:165739200-165742600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:165739200-165742800	Weak transcription	Brain Angular Gyrus	brain
9	chr1:165739200-165742800	Weak transcription	Fetal Stomach	stomach
10	chr1:165739200-165743200	Weak transcription	Brain Germinal Matrix	brain
11	chr1:165739200-165743200	Weak transcription	Placenta	Placenta
12	chr1:165739200-165743200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:165739200-165743200	Weak transcription	Thymus	Thymus
14	chr1:165739200-165744600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:165739200-165744800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:165739200-165745200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:165739200-165745400	Weak transcription	Brain Anterior Caudate	brain
18	chr1:165739200-165745400	Weak transcription	Right Ventricle	heart
19	chr1:165739200-165745600	Weak transcription	Fetal Intestine Small	intestine
20	chr1:165739200-165745600	Weak transcription	Lung	lung
21	chr1:165739200-165746000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:165739400-165741400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:165739400-165741800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:165739400-165742200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:165739400-165742600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:165739400-165742800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:165739400-165742800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:165739400-165742800	Weak transcription	Brain Substantia Nigra	brain
29	chr1:165739400-165742800	Weak transcription	Esophagus	oesophagus
30	chr1:165739400-165743600	Weak transcription	Small Intestine	intestine
31	chr1:165739400-165744400	Weak transcription	Left Ventricle	heart
32	chr1:165739400-165744600	Weak transcription	Primary B cells from cord blood	blood
33	chr1:165739400-165744800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr1:165739400-165744800	Weak transcription	Fetal Lung	lung
35	chr1:165739400-165745600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr1:165739600-165741200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:165739600-165741800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:165739600-165742000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:165739600-165742000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:165739600-165742000	Weak transcription	HepG2	liver
41	chr1:165739600-165742000	Weak transcription	HUVEC	blood vessel
42	chr1:165739600-165742600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr1:165739600-165742600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:165739600-165742600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:165739600-165742800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:165739600-165742800	Weak transcription	Adipose Nuclei	Adipose
47	chr1:165739600-165742800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:165739600-165743200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:165739600-165743400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr1:165739600-165743400	Weak transcription	Primary hematopoietic stem cells	blood

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