Variant report

Variant	rs34100397
Chromosome Location	chr2:171702071-171702072
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:116)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr2:171701925-171702213	K562	blood:	n/a	n/a
2	CTCF	chr2:171701923-171702130	H1-hESC	embryonic stem cell:	n/a	n/a
3	ELF1	chr2:171701794-171702292	K562	blood:	n/a	n/a
4	CTCF	chr2:171702060-171702210	GM12864	blood:	n/a	n/a
5	CTCF	chr2:171701932-171702110	GM13977	blood:	n/a	n/a
6	CTCF	chr2:171701853-171702145	A549	lung:	n/a	n/a
7	CTCF	chr2:171701960-171702110	HFF-Myc	foreskin:	n/a	n/a
8	CTCF	chr2:171701951-171702141	GM19238	blood:	n/a	n/a
9	CTCF	chr2:171701939-171702081	Medullo	brain:	n/a	n/a
10	GABPA	chr2:171701760-171702249	K562	blood:	n/a	n/a
11	CTCF	chr2:171701980-171702130	GM12878	blood:	n/a	n/a
12	CTCF	chr2:171701960-171702110	GM12867	blood:	n/a	n/a
13	CTCF	chr2:171701934-171702143	GM12878	blood:	n/a	n/a
14	CTCF	chr2:171701940-171702090	Caco-2	colon:	n/a	n/a
15	CTCFL	chr2:171701943-171702107	K562	blood:	n/a	n/a
16	MAX	chr2:171701863-171702252	K562	blood:	n/a	n/a
17	CTCF	chr2:171702020-171702170	HCM	heart:	n/a	n/a
18	CTCF	chr2:171701914-171702201	K562	blood:	n/a	n/a
19	ELF1	chr2:171701888-171702274	K562	blood:	n/a	n/a
20	CTCF	chr2:171702040-171702190	MCF-7	breast:	n/a	n/a
21	YY1	chr2:171701898-171702175	HepG2	liver:	n/a	n/a
22	CTCF	chr2:171701931-171702125	Gliobla	brain:	n/a	n/a
23	GABPA	chr2:171701745-171702337	A549	lung:	n/a	n/a
24	CTCF	chr2:171701787-171702202	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr2:171701960-171702110	GM12874	blood:	n/a	n/a
26	MAX	chr2:171701845-171702200	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr2:171701929-171702128	A549	lung:	n/a	n/a
28	GABPA	chr2:171701921-171702201	K562	blood:	n/a	n/a
29	CTCF	chr2:171701954-171702109	MCF-7	breast:	n/a	n/a
30	RAD21	chr2:171701882-171702078	K562	blood:	n/a	n/a
31	CTCF	chr2:171701940-171702090	GM12864	blood:	n/a	n/a
32	CTCF	chr2:171701940-171702090	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr2:171701937-171702118	GM19240	blood:	n/a	n/a
34	CTCF	chr2:171701940-171702090	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr2:171701940-171702090	HepG2	liver:	n/a	n/a
36	HCFC1	chr2:171701885-171702277	K562	blood:	n/a	n/a
37	YY1	chr2:171701919-171702153	GM12878	blood:	n/a	n/a
38	CTCF	chr2:171701905-171702144	K562	blood:	n/a	n/a
39	YY1	chr2:171701820-171702256	K562	blood:	n/a	n/a
40	MAX	chr2:171701930-171702177	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr2:171701889-171702183	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr2:171701960-171702110	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr2:171701891-171702102	HepG2	liver:	n/a	n/a
44	RAD21	chr2:171701864-171702085	HepG2	liver:	n/a	n/a
45	RAD21	chr2:171701795-171702242	ECC-1	luminal epithelium:	n/a	n/a
46	CTCF	chr2:171701826-171702182	HepG2	liver:	n/a	n/a
47	CTCF	chr2:171701979-171702073	HUVEC	blood vessel:	n/a	n/a
48	YY1	chr2:171701798-171702267	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr2:171701960-171702110	GM12870	blood:	n/a	n/a
50	CTCF	chr2:171701969-171702121	NHEK	skin:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:171219100..171220996-chr2:171700581..171703536,2	MCF-7	breast:
2	chr2:171696976..171698746-chr2:171701808..171703928,2	K562	blood:
3	chr2:171701759..171703523-chr2:171707553..171709980,2	K562	blood:
4	chr2:171701425..171702174-chr2:171729449..171729961,2	K562	blood:
5	chr2:171701656..171704671-chr2:171708138..171712566,5	K562	blood:

No data

Variant related genes	Relation type
GAD1	TF binding region
ENSG00000128683	Chromatin interaction

rs_ID	r²[population]
rs34856125	1.00[AFR][1000 genomes]
rs35426017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3791855	1.00[AMR][1000 genomes]
rs45447099	1.00[EUR][1000 genomes]
rs6750787	1.00[EUR][1000 genomes]

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171687800-171712600	Weak transcription	Brain Anterior Caudate	brain
2	chr2:171688800-171719000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:171689800-171705400	Weak transcription	Aorta	Aorta
4	chr2:171690000-171715000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:171693800-171706400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:171697000-171704000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:171697200-171718400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:171699000-171705400	Weak transcription	Brain Germinal Matrix	brain
9	chr2:171699000-171730000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:171699200-171704000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:171700800-171703000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:171700800-171704200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:171700800-171704400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:171700800-171704400	Weak transcription	NHDF-Ad	bronchial
15	chr2:171700800-171705200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:171700800-171705200	Weak transcription	HSMMtube	muscle
17	chr2:171701000-171704200	Weak transcription	HSMM	muscle
18	chr2:171701000-171709400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:171701200-171704400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:171701400-171704400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:171701600-171704400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:171701800-171703000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:171701800-171704400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:171702000-171702200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:171702000-171702400	Active TSS	K562	blood
26	chr2:171702000-171703800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:171702000-171704200	Weak transcription	NHEK	skin

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