Variant report

Variant	rs7105575
Chromosome Location	chr11:75282820-75282821
allele	A/C
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	chr11:75281673-75286842	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr11:75280807-75288004	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:75282527-75283178	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr11:75282746-75283028	T-47D	breast:	n/a	n/a
5	POLR2A	chr11:75282309-75283761	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:75282232-75286904	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr11:75282700-75283598	K562	blood:	n/a	n/a
8	PML	chr11:75281755-75282963	K562	blood:	n/a	n/a
9	SP1	chr11:75282749-75283596	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:75282420-75285801	K562	blood:	n/a	n/a
11	POLR2A	chr11:75282642-75283211	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75279889..75285292-chr11:75289695..75295814,8	K562	blood:

Variant related genes	Relation type
SERPINH1	TF binding region
ENSG00000255326	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17133983	1.00[MEX][hapmap]
rs17134159	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17134160	1.00[AMR][1000 genomes]
rs7933166	1.00[MEX][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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv525193	chr11:75276178-75287341	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75274600-75286400	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr11:75274600-75287000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr11:75274600-75287200	Weak transcription	Primary B cells from cord blood	blood
4	chr11:75274800-75286600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:75275000-75286800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:75275200-75285200	Weak transcription	Brain Germinal Matrix	brain
7	chr11:75275200-75293800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:75275400-75293400	Weak transcription	Fetal Brain Male	brain
9	chr11:75275600-75293400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:75276400-75284800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:75276800-75285000	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr11:75276800-75285400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:75276800-75285600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:75277000-75284600	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:75277000-75285000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:75277000-75285000	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:75277000-75285000	Strong transcription	Aorta	Aorta
18	chr11:75277000-75285200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:75277200-75284600	Strong transcription	Hela-S3	cervix
20	chr11:75277200-75284800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:75277200-75285200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:75277200-75285400	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:75277200-75285400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr11:75277200-75287200	Strong transcription	Fetal Intestine Small	intestine
25	chr11:75277400-75284400	Strong transcription	Dnd41	blood
26	chr11:75277400-75284600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:75277400-75284800	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr11:75277400-75285200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:75277400-75285200	Strong transcription	NHEK	skin
30	chr11:75277400-75285800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:75277400-75286600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:75277600-75283400	Strong transcription	Stomach Mucosa	stomach
33	chr11:75277600-75284400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:75277600-75284600	Strong transcription	Thymus	Thymus
35	chr11:75277600-75284800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:75277600-75285000	Strong transcription	Liver	Liver
37	chr11:75277600-75285200	Strong transcription	Brain Anterior Caudate	brain
38	chr11:75277600-75285200	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr11:75277600-75285400	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr11:75277600-75285600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:75277600-75285800	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:75277600-75286600	Strong transcription	HSMM	muscle
43	chr11:75277800-75283200	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr11:75277800-75284400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:75277800-75284400	Strong transcription	Fetal Thymus	thymus
46	chr11:75277800-75284800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:75277800-75285000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:75277800-75285000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:75277800-75285000	Strong transcription	Colonic Mucosa	Colon
50	chr11:75277800-75285400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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