Variant report

Variant	rs16841797
Chromosome Location	chr1:150770989-150770990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF274	chr1:150770969-150771267	NT2-D1	testis:	n/a	n/a
2	KAP1	chr1:150770950-150771273	HEK293	kidney:	n/a	n/a
3	POLR2A	chr1:150770970-150771125	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150758246..150759867-chr1:150770276..150772324,2	K562	blood:
2	chr1:150766703..150768461-chr1:150769948..150772037,2	MCF-7	breast:
3	chr1:150769648..150771836-chr1:150777796..150780549,2	K562	blood:

Variant related genes	Relation type
UBE2D3P3	TF binding region
ENSG00000143387	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10305700	1.00[TSI][hapmap]
rs10305711	0.81[LWK][hapmap]
rs10888397	0.85[LWK][hapmap]
rs11552229	0.81[LWK][hapmap]
rs11581757	0.85[LWK][hapmap]
rs11589458	0.89[YRI][hapmap]
rs11807450	0.89[YRI][hapmap]
rs12402939	0.89[YRI][hapmap]
rs1336900	0.89[YRI][hapmap]
rs3768005	0.89[YRI][hapmap]
rs7550809	0.88[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv437169	chr1:150738197-150816886	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	nsv2788	chr1:150755334-150800785	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv160180	chr1:150765276-150772670	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150760400-150771000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:150760600-150771000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:150760600-150771400	Weak transcription	Fetal Kidney	kidney
4	chr1:150760600-150779600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:150760800-150771000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:150761200-150771000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:150761200-150783200	Weak transcription	GM12878-XiMat	blood
8	chr1:150762400-150779200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:150762400-150780000	Weak transcription	NHEK	skin
10	chr1:150764600-150781600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:150765400-150771000	Weak transcription	A549	lung
12	chr1:150765400-150781400	Weak transcription	HMEC	breast
13	chr1:150765400-150793600	Weak transcription	Fetal Heart	heart
14	chr1:150766800-150773600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:150766800-150775800	Weak transcription	HUVEC	blood vessel
16	chr1:150767000-150771000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:150767000-150779400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:150767200-150779400	Weak transcription	Fetal Brain Male	brain
19	chr1:150767400-150773000	Strong transcription	Fetal Stomach	stomach
20	chr1:150767400-150773600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:150767400-150773600	Strong transcription	Stomach Smooth Muscle	stomach
22	chr1:150767600-150771000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:150767600-150771800	Weak transcription	Thymus	Thymus
24	chr1:150767600-150772400	Strong transcription	Primary T cells from cord blood	blood
25	chr1:150767600-150773600	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr1:150767600-150774000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:150767600-150783600	Weak transcription	Psoas Muscle	Psoas
28	chr1:150767800-150771000	Strong transcription	NHDF-Ad	bronchial
29	chr1:150767800-150773200	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:150767800-150773200	Strong transcription	Osteobl	bone
31	chr1:150767800-150773400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr1:150767800-150773600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:150767800-150777000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:150767800-150778400	Strong transcription	Fetal Muscle Leg	muscle
35	chr1:150767800-150780200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:150768000-150771000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:150768000-150771000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:150768000-150772200	Strong transcription	Fetal Intestine Large	intestine
39	chr1:150768000-150772200	Strong transcription	Left Ventricle	heart
40	chr1:150768000-150772200	Strong transcription	Lung	lung
41	chr1:150768000-150772600	Strong transcription	Aorta	Aorta
42	chr1:150768000-150772600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:150768000-150776600	Strong transcription	Placenta	Placenta
44	chr1:150768000-150777000	Strong transcription	Liver	Liver
45	chr1:150768200-150772200	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr1:150768200-150772200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:150768200-150772400	Strong transcription	Ovary	ovary
48	chr1:150768200-150772600	Strong transcription	Brain Hippocampus Middle	brain
49	chr1:150768200-150773000	Strong transcription	NHLF	lung
50	chr1:150768200-150773400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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