Variant report

Variant	rs73406914
Chromosome Location	chr12:123337068-123337069
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	chr12:123336179-123337383	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr12:123336987-123337104	NHEK	skin:	n/a	n/a
3	MXI1	chr12:123337041-123337864	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr12:123336616-123337100	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr12:123336246-123337135	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123329734..123338030-chr12:123339120..123345153,11	MCF-7	breast:
2	chr12:123319192..123322007-chr12:123336993..123339222,2	MCF-7	breast:

Variant related genes	Relation type
HIP1R	TF binding region
ENSG00000130787	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs34647278	1.00[AMR][1000 genomes]
rs35245907	1.00[AMR][1000 genomes]
rs56718360	0.91[AFR][1000 genomes]
rs57023093	1.00[AMR][1000 genomes]
rs58901651	1.00[AMR][1000 genomes]
rs59065210	1.00[AMR][1000 genomes]
rs60009235	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60448869	1.00[AMR][1000 genomes]
rs60589503	1.00[AMR][1000 genomes]
rs61520028	1.00[AMR][1000 genomes]
rs73406940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406948	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406954	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406957	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406959	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406973	1.00[AMR][1000 genomes]
rs73406977	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73415564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421628	1.00[AMR][1000 genomes]
rs73421644	1.00[AMR][1000 genomes]
rs73421649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421661	1.00[AFR][1000 genomes];1.00[AMR][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	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv899574	chr12:123316566-123360151	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv560490	chr12:123326374-123346971	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv899575	chr12:123326374-123360151	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123322800-123339600	Weak transcription	Dnd41	blood
2	chr12:123322800-123353000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:123323200-123340800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:123323200-123352000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:123323600-123340800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:123324600-123344800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:123324600-123352800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:123324800-123351600	Weak transcription	Small Intestine	intestine
9	chr12:123325000-123338400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:123326600-123345000	Weak transcription	A549	lung
11	chr12:123327200-123340000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:123327200-123344200	Weak transcription	Hela-S3	cervix
13	chr12:123327400-123352600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:123327600-123353400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:123329200-123337600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:123329200-123355000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:123329400-123341800	Weak transcription	HepG2	liver
18	chr12:123329600-123344600	Strong transcription	Fetal Intestine Small	intestine
19	chr12:123330000-123340400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:123330400-123344400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr12:123330400-123349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:123331000-123340800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:123332200-123338600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
24	chr12:123332200-123341000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:123332200-123343200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:123332400-123337600	Strong transcription	Fetal Intestine Large	intestine
27	chr12:123332600-123341200	Genic enhancers	Brain Cingulate Gyrus	brain
28	chr12:123332600-123344800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr12:123332600-123355600	Strong transcription	Thymus	Thymus
30	chr12:123333000-123344400	Strong transcription	Spleen	Spleen
31	chr12:123333000-123344600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr12:123333000-123345000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:123333200-123337400	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:123333400-123338600	Enhancers	Left Ventricle	heart
35	chr12:123333400-123339400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:123333400-123340800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:123333600-123338400	Strong transcription	Primary B cells from cord blood	blood
38	chr12:123333800-123342800	Weak transcription	Ovary	ovary
39	chr12:123334000-123338800	Enhancers	Right Ventricle	heart
40	chr12:123334200-123338600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:123334400-123337600	Genic enhancers	Brain Hippocampus Middle	brain
42	chr12:123334400-123344400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:123334600-123339400	Weak transcription	Colonic Mucosa	Colon
44	chr12:123334600-123340200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr12:123334600-123340400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr12:123334800-123338200	Weak transcription	Liver	Liver
47	chr12:123334800-123339000	Enhancers	Brain Angular Gyrus	brain
48	chr12:123335200-123337600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:123335200-123347000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:123335400-123337200	Enhancers	Right Atrium	heart

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