Variant report

Variant	rs61746524
Chromosome Location	chr6:30888876-30888877
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	POLR2A	chr6:30888702-30888964	K562	blood:	n/a	n/a
2	POLR2A	chr6:30888778-30889120	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30860099..30863681-chr6:30886781..30890707,3	K562	blood:
2	chr6:30882042..30885135-chr6:30886350..30889389,4	MCF-7	breast:
3	chr6:30887250..30888956-chr6:30920094..30923079,2	MCF-7	breast:
4	chr6:30888080..30889607-chr6:30890909..30892611,2	MCF-7	breast:

Variant related genes	Relation type
VARS2	TF binding region
ENSG00000137411	Chromatin interaction
ENSG00000233529	Chromatin interaction
ENSG00000204580	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17189635	0.84[AFR][1000 genomes]
rs59448232	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1031677	chr6:30857542-30972865	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv525438	chr6:30864829-30933975	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv523346	chr6:30882513-30893941	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
9	nsv884126	chr6:30886350-30895990	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30882800-30890200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:30882800-30890200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:30883000-30889000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:30883400-30891200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:30883400-30894400	Weak transcription	Hela-S3	cervix
6	chr6:30883400-30895800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:30883400-30897000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:30883600-30890800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr6:30883600-30892000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr6:30883800-30889800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:30883800-30889800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:30883800-30890200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:30883800-30890400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:30883800-30894000	Weak transcription	Fetal Kidney	kidney
15	chr6:30883800-30894200	Weak transcription	Psoas Muscle	Psoas
16	chr6:30883800-30895200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:30883800-30895800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr6:30883800-30896600	Strong transcription	Fetal Muscle Leg	muscle
19	chr6:30884000-30889600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:30884000-30889600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:30884000-30890000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:30884000-30890200	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr6:30884000-30891600	Strong transcription	Colon Smooth Muscle	Colon
24	chr6:30884000-30894800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr6:30884000-30894800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr6:30884000-30895000	Strong transcription	Placenta	Placenta
27	chr6:30884000-30895800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr6:30884000-30896000	Strong transcription	Fetal Stomach	stomach
29	chr6:30884000-30896200	Strong transcription	Fetal Thymus	thymus
30	chr6:30884000-30897000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:30884200-30889800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:30884200-30893800	Weak transcription	Fetal Brain Male	brain
33	chr6:30884200-30894000	Weak transcription	HSMM	muscle
34	chr6:30884200-30894800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr6:30884200-30894800	Strong transcription	Fetal Intestine Large	intestine
36	chr6:30884200-30895000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:30884200-30895400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr6:30884200-30895600	Strong transcription	Fetal Intestine Small	intestine
39	chr6:30884200-30896200	Strong transcription	Fetal Brain Female	brain
40	chr6:30884400-30890400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:30884400-30890600	Strong transcription	GM12878-XiMat	blood
42	chr6:30884400-30894600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr6:30884400-30894600	Strong transcription	Stomach Smooth Muscle	stomach
44	chr6:30884400-30894800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr6:30884400-30894800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:30884400-30894800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr6:30884400-30894800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr6:30884400-30895000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:30884400-30895000	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr6:30884400-30895600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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