Variant report

Variant	rs41285033
Chromosome Location	chr6:144185502-144185503
allele	A/G
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	POLR2A	chr6:144185475-144186166	K562	blood:	n/a	n/a
2	POLR2A	chr6:144185006-144187830	K562	blood:	n/a	n/a
3	JUN	chr6:144185367-144185692	HepG2	liver:	n/a	chr6:144185528-144185541 chr6:144185529-144185538
4	POLR2A	chr6:144185407-144185789	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:144184937-144186848	HepG2	liver:	n/a	n/a
6	JUND	chr6:144185356-144185708	HepG2	liver:	n/a	chr6:144185529-144185538
7	POLR2A	chr6:144185242-144185922	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144163076..144165492-chr6:144183251..144186623,3	MCF-7	breast:
2	chr6:144178412..144181034-chr6:144184513..144187183,2	K562	blood:

Variant related genes	Relation type
ZC2HC1B	TF binding region
ENSG00000270890	Chromatin interaction
ENSG00000135521	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17073137	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103789	0.86[ASN][1000 genomes]
rs6570583	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773644	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9484820	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9496794	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144165600-144186800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:144166000-144186000	Strong transcription	Primary B cells from peripheral blood	blood
3	chr6:144166000-144187000	Strong transcription	Duodenum Mucosa	Duodenum
4	chr6:144166000-144188600	Strong transcription	Primary T cells from cord blood	blood
5	chr6:144172400-144189000	Weak transcription	Small Intestine	intestine
6	chr6:144172600-144187800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:144173800-144186600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:144174800-144187600	Strong transcription	Fetal Thymus	thymus
9	chr6:144175200-144187800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:144175400-144186800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr6:144175600-144185800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr6:144175600-144186200	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr6:144175600-144186800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:144175600-144187000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:144175600-144187400	Strong transcription	Liver	Liver
16	chr6:144175600-144187400	Strong transcription	Fetal Intestine Large	intestine
17	chr6:144175600-144187600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:144175800-144186000	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr6:144175800-144186400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:144175800-144186600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr6:144175800-144186800	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr6:144175800-144187000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:144175800-144187600	Strong transcription	Adipose Nuclei	Adipose
24	chr6:144175800-144187600	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr6:144175800-144187800	Strong transcription	Brain Hippocampus Middle	brain
26	chr6:144176000-144187000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:144176200-144185800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:144176200-144186200	Strong transcription	Primary B cells from cord blood	blood
29	chr6:144176200-144186600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr6:144176200-144186800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:144176200-144186800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:144176200-144187800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr6:144176400-144186000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr6:144176400-144186000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:144176400-144186600	Strong transcription	Osteobl	bone
36	chr6:144176400-144187400	Strong transcription	Dnd41	blood
37	chr6:144176600-144186200	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr6:144177000-144187200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:144177000-144187400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr6:144177200-144187000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:144177200-144187600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:144177400-144185600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:144177600-144185800	Strong transcription	Fetal Kidney	kidney
44	chr6:144177600-144186000	Strong transcription	HUVEC	blood vessel
45	chr6:144177600-144187600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:144177600-144188200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr6:144177800-144185800	Strong transcription	K562	blood
48	chr6:144177800-144186000	Strong transcription	HSMMtube	muscle
49	chr6:144177800-144186800	Strong transcription	GM12878-XiMat	blood
50	chr6:144177800-144187000	Strong transcription	HSMM	muscle

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