Variant report

Variant	rs10197238
Chromosome Location	chr2:74216755-74216756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74215681..74218530-chr2:74336371..74337878,2	MCF-7	breast:
2	chr2:74164943..74166674-chr2:74216384..74217896,2	K562	blood:
3	chr2:74146977..74148538-chr2:74216014..74218823,2	K562	blood:
4	chr2:74147649..74157677-chr2:74203379..74217813,34	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BOLA3-4	chr2:74216118-74216884	NONHSAT071648

Variant related genes	Relation type
ENSG00000114956	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10166873	0.93[AMR][1000 genomes]
rs10201998	0.83[EUR][1000 genomes]
rs10207365	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10207954	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903339	0.83[EUR][1000 genomes]
rs12328448	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272165	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28421442	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4852999	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6546883	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705628	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6714060	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011177	chr2:74167343-74239905	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74213200-74217200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr2:74213200-74218000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
3	chr2:74213400-74216800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr2:74213400-74216800	Enhancers	H9 Cell Line	embryonic stem cell
5	chr2:74213400-74216800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:74213400-74220400	Weak transcription	HSMMtube	muscle
7	chr2:74214400-74216800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:74214800-74217000	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr2:74215000-74216800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:74215000-74216800	Enhancers	Left Ventricle	heart
11	chr2:74215000-74216800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
12	chr2:74215000-74217000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:74215200-74216800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr2:74215200-74217400	Genic enhancers	Primary T cells fromperipheralblood	blood
15	chr2:74215200-74217400	Enhancers	Right Ventricle	heart
16	chr2:74215200-74217800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr2:74215400-74217000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:74215400-74217000	Enhancers	Adipose Nuclei	Adipose
19	chr2:74215400-74217200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:74215400-74220200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:74215400-74220200	Weak transcription	NHLF	lung
22	chr2:74215600-74216800	Genic enhancers	Fetal Thymus	thymus
23	chr2:74215600-74217000	Genic enhancers	Thymus	Thymus
24	chr2:74215600-74217200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:74215600-74217400	Genic enhancers	Primary hematopoietic stem cells	blood
26	chr2:74215600-74217600	Genic enhancers	Esophagus	oesophagus
27	chr2:74215600-74218200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr2:74215600-74224800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:74215800-74216800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:74215800-74216800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr2:74215800-74216800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:74215800-74216800	Enhancers	Fetal Brain Male	brain
33	chr2:74215800-74216800	Genic enhancers	Fetal Intestine Large	intestine
34	chr2:74215800-74216800	Genic enhancers	Fetal Muscle Leg	muscle
35	chr2:74215800-74217000	Genic enhancers	Gastric	stomach
36	chr2:74215800-74217200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:74215800-74217200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr2:74215800-74217200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr2:74215800-74217200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:74215800-74217400	Weak transcription	Psoas Muscle	Psoas
41	chr2:74215800-74217800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr2:74215800-74218000	Genic enhancers	Primary monocytes fromperipheralblood	blood
43	chr2:74215800-74218000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:74215800-74218200	Strong transcription	A549	lung
45	chr2:74215800-74220000	Weak transcription	HSMM	muscle
46	chr2:74215800-74220200	Weak transcription	HUVEC	blood vessel
47	chr2:74215800-74220600	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:74215800-74224600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:74215800-74225000	Weak transcription	Brain Anterior Caudate	brain
50	chr2:74215800-74225400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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