Variant report

Variant	rs61501937
Chromosome Location	chr1:228404198-228404199
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	MXI1	chr1:228403877-228404328	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:228330921..228333464-chr1:228403615..228405711,2	MCF-7	breast:
2	chr1:228403882..228405621-chr1:228418994..228420912,2	K562	blood:
3	chr1:228401876..228404808-chr1:228460949..228463356,3	K562	blood:

Variant related genes	Relation type
C1orf145	TF binding region
ENSG00000269890	Chromatin interaction
ENSG00000143774	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10495278	0.80[EUR][1000 genomes]
rs10495279	0.80[EUR][1000 genomes]
rs11580599	0.80[EUR][1000 genomes]
rs11582369	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585491	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11586055	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12034268	0.80[EUR][1000 genomes]
rs12039801	0.80[EUR][1000 genomes]
rs1771486	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653908	0.80[EUR][1000 genomes]
rs61560753	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61825157	0.80[EUR][1000 genomes]
rs61825159	0.80[EUR][1000 genomes]
rs61827462	0.80[EUR][1000 genomes]
rs6685150	0.82[ASN][1000 genomes]
rs9970544	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
7	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
8	nsv873257	chr1:228322826-228412106	Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
10	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
11	nsv873263	chr1:228391808-228494790	Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228395800-228405200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
2	chr1:228400600-228404200	Active TSS	Brain Anterior Caudate	brain
3	chr1:228401400-228404200	Enhancers	Fetal Brain Male	brain
4	chr1:228401400-228405200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:228401400-228412200	Weak transcription	HSMMtube	muscle
6	chr1:228401400-228412600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:228401600-228412200	Weak transcription	Right Atrium	heart
8	chr1:228401800-228404400	Genic enhancers	Right Ventricle	heart
9	chr1:228401800-228407200	Weak transcription	Ovary	ovary
10	chr1:228401800-228412000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:228402000-228404600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:228402000-228404600	Enhancers	Fetal Heart	heart
13	chr1:228402000-228405000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
14	chr1:228402000-228406800	Weak transcription	Psoas Muscle	Psoas
15	chr1:228402000-228407200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:228402000-228407200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:228402000-228412000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:228402000-228412200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:228402000-228412200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:228402000-228412600	Weak transcription	Fetal Kidney	kidney
21	chr1:228402200-228404600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:228402200-228406600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:228402200-228410200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:228402200-228411800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr1:228402200-228412200	Weak transcription	A549	lung
26	chr1:228402200-228412200	Weak transcription	Hela-S3	cervix
27	chr1:228402200-228412200	Weak transcription	NHEK	skin
28	chr1:228402200-228412400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:228402200-228412600	Weak transcription	Primary B cells from cord blood	blood
30	chr1:228402200-228415200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr1:228402200-228425800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:228402200-228428800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:228402400-228404400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:228402400-228404600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr1:228402400-228404800	Genic enhancers	Fetal Muscle Leg	muscle
36	chr1:228402400-228406600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:228402400-228408400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:228402400-228411400	Strong transcription	Fetal Intestine Small	intestine
39	chr1:228402400-228411600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:228402400-228412400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:228402400-228412600	Weak transcription	HMEC	breast
42	chr1:228402600-228404200	Genic enhancers	Fetal Stomach	stomach
43	chr1:228402600-228406200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:228402600-228408400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:228402600-228408400	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr1:228402600-228408600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:228402600-228409000	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr1:228402600-228410600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:228402600-228418000	Strong transcription	Primary T cells from cord blood	blood
50	chr1:228402800-228407200	Genic enhancers	Fetal Muscle Trunk	muscle

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